A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674805



Internal ID9940910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114902451..114902814hg38UCSC Ensembl
chr1:115445072..115445435hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38364
hg19364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6019689, essv5989509, essv6452265, essv5862006, essv6090739, essv6485079, essv5870061, essv5404017, essv6421616, essv6412496, essv6256883, essv5429668, essv6548728, essv6292547, essv5882674, essv6169158, essv5809233, essv6142039, essv6168820, essv6307831, essv5756115, essv5511000, essv6150972, essv6042663, essv6242305, essv5729173, essv5566573, essv5612205, essv6147122, essv6424546, essv6558569, essv5830396, essv5532101, essv6386867, essv5396225, essv6196605, essv6346933, essv6450840, essv5499306, essv5680289, essv5486274, essv5762200, essv6563978, essv6206042
SamplesNA19394, NA11829, NA18507, NA18917, NA12045, NA20359, NA18510, NA19373, NA18519, NA07347, NA20287, NA19384, NA19130, NA19383, NA18874, NA19137, NA19385, NA19901, NA19445, NA18908, NA19451, NA19247, NA19462, NA18907, NA18499, NA18856, NA19453, NA18532, NA18523, NA12043, NA19375, NA18909, NA19108, NA18517, NA19467, HG01342, NA19248, NA19713, HG01055, NA19102, NA18873, NA19213, NA19129, NA18488
Known GenesSYCP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674805
Frequency
Sample Size1151
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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