A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665729



Internal ID9931834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196753586..196853192hg38UCSC Ensembl
Outerchr1:196753215..196853562hg38UCSC Ensembl
Innerchr1:196722716..196822322hg19UCSC Ensembl
Outerchr1:196722345..196822692hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38100348
hg19100348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv87e199
Supporting Variantsessv5896886, essv6191594, essv6181774, essv5731999, essv6541101, essv6011061, essv5625368, essv6393386, essv5854941, essv5494911, essv6223515, essv5785636, essv5849594, essv5665032, essv6422221, essv6449704, essv6021314, essv6184714, essv6087319, essv6074375, essv5622642, essv5728972, essv6519990, essv6000640, essv6018597, essv6157451, essv5951985, essv6258022, essv5998076, essv6469120, essv6372932, essv6128051, essv5812445, essv6390204, essv5986409, essv6014744, essv6450266, essv6298000, essv6527076, essv5461672, essv6199646, essv6077561, essv6073240, essv6301143, essv6081955, essv6078748, essv6452329, essv6051027, essv5782191, essv6488108, essv5874003, essv5710963, essv6506495, essv6260961, essv6125047, essv5571220, essv6493866, essv6495470, essv6596836, essv6115809, essv5492659, essv5624099, essv5978784, essv5682757, essv6313616, essv5748061
SamplesNA18502, NA18924, NA18861, NA18508, NA18507, NA18504, NA19190, NA19098, NA18870, NA18510, NA19107, NA19171, NA18519, NA18489, NA19119, NA18923, NA19198, NA19131, NA18916, NA19138, NA18498, NA19130, NA18874, NA18868, NA19137, NA19235, NA19207, NA19172, NA19159, NA19189, NA18520, NA19209, NA18908, NA18867, NA19200, NA19247, NA18933, NA19236, NA18516, NA18910, NA18871, NA18907, NA19114, NA18499, NA18856, NA19099, NA19257, NA19225, NA18523, NA18858, NA18909, NA19256, NA19147, NA18517, NA19144, NA18501, NA19248, NA19223, NA19093, NA19102, NA18873, NA19116, NA19129, NA18511, NA18522, NA18487
Known GenesCFHR1, CFHR3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665729
Frequency
Sample Size1151
Observed Gain0
Observed Loss66
Observed Complex0
Frequencyn/a


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