A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670613



Internal ID9590032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:976686..979442hg38UCSC Ensembl
Outerchr1:976265..979812hg38UCSC Ensembl
Innerchr1:912066..914822hg19UCSC Ensembl
Outerchr1:911645..915192hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg383548
hg193548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6400366, essv5789556, essv5944648, essv5854734, essv5975232, essv6442790, essv5955626, essv5681970, essv5535610, essv5724880, essv6099762, essv6535946, essv5840689, essv6199706, essv5615197, essv5833597, essv6430927, essv6443495, essv6338447, essv5993200, essv5718556, essv5773855, essv6042185, essv5467419, essv6387100, essv6021580, essv6313757, essv6102802, essv5864207, essv6187040, essv6191383, essv5615808, essv6263463, essv6483725, essv6436893, essv6109108, essv6068647, essv5778222, essv6327372, essv6467493, essv5768893, essv6317482, essv6430407, essv6204209, essv5905036, essv5781640, essv6128474, essv5572747, essv6085046, essv6284507, essv5779263, essv5821063, essv6560863, essv5477110, essv6464009, essv6150879, essv5703730, essv6585690, essv6134181, essv6324543, essv5506395, essv6587307, essv5710426, essv5869388, essv5541532, essv5601933, essv6480331, essv6078680, essv5462014, essv6267868, essv5962986, essv5911759, essv5452156, essv5905964, essv5684098, essv6263431, essv6598157, essv5441563, essv5641324, essv6330051, essv6379774, essv6327051, essv6279545, essv6555599, essv5712285, essv5442020, essv6314870, essv5486053, essv5680397, essv6376621, essv5422914, essv5723792, essv5841281, essv6536645, essv5482863, essv5871535, essv5889195, essv6010738, essv6189900, essv6402564, essv6389326, essv6526343, essv6185252, essv6502636, essv5563021, essv6469348, essv6159415, essv5471639, essv6505246, essv5804523, essv5914563, essv6237379, essv5495292, essv5861730, essv6521104, essv6523376, essv5584422, essv6005729, essv6449523, essv6480133, essv6325639, essv6227956, essv6418259, essv5564928, essv5500942, essv5836989, essv5963116, essv5475375, essv6255541, essv6191793, essv5787081, essv6016618, essv5567082, essv5738531, essv6186898, essv5620498, essv6553074, essv6099101, essv5762189, essv5973675, essv6370075, essv5925242, essv6423047, essv5419278, essv5703177, essv5489577
SamplesNA19058, NA19055, NA18621, NA18947, NA19066, NA18592, NA18565, NA18980, NA18561, NA18599, NA18999, NA18603, NA18545, NA18596, NA18530, NA18606, NA18616, NA18526, NA18633, NA19067, NA18602, NA18988, NA18627, NA18967, NA19068, NA18563, NA19076, NA19005, NA18944, NA18940, NA18550, NA18597, NA18595, NA18982, NA18635, NA18567, NA18619, NA18558, NA18547, NA18942, NA18618, NA19062, NA18574, NA19088, NA19054, NA18964, NA19079, NA18949, NA18611, NA18977, NA18560, NA19075, NA18617, NA18986, NA19087, NA18990, NA18557, NA18985, NA18975, NA18973, NA18539, NA18638, NA19007, NA18614, NA18951, NA18544, NA18605, NA18613, NA18538, NA19082, NA19070, NA19056, NA19077, NA18956, NA19081, NA18637, NA18579, NA18976, NA18948, NA18534, NA18630, NA18981, NA18548, NA18566, NA18573, NA19000, NA19084, NA18532, NA18553, NA19059, NA19009, NA18555, NA18536, NA18570, NA18634, NA18593, NA18945, NA18541, NA19012, NA18974, NA18576, NA18546, NA18608, NA18953, NA19003, NA18632, NA18542, NA18535, NA18961, NA18952, NA18543, NA18559, NA18628, NA19072, NA18950, NA18941, NA19083, NA18943, NA19085, NA18615, NA18610, NA19078, NA18971, NA18631, NA18987, NA18636, NA18609, NA19080, NA18972, NA18552, NA18983, NA18984, NA18989, NA19004, NA18968, NA18624, NA18623, NA19063, NA19065, NA18612, NA18549, NA19074, NA18622, NA18965, NA18577, NA18620
Known GenesC1orf170
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670613
Frequency
Sample Size1151
Observed Gain0
Observed Loss146
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer