A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2675258

Internal ID9594677
Location Information
TypeCoordinatesAssemblyOther Links
chr1:107860349..107862862hg38UCSC Ensembl
chr1:108402971..108405484hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5868084, essv5443813, essv6582311, essv5722266, essv6055268, essv5665325, essv6402240, essv5536202, essv5706170, essv6179544, essv6079154, essv6590480, essv5909910, essv6043940, essv6062419, essv6053173, essv6480769, essv5508413, essv5624798, essv6013196, essv6456863, essv5415516, essv5718819, essv6177948, essv6395002, essv5508010, essv5420663, essv5951058, essv5423489, essv5723608, essv5728019, essv6407532, essv6550425, essv5772803, essv6245502, essv5443575, essv6417868, essv6526164, essv5756350, essv5993297, essv5824699, essv5767799, essv6576131, essv5738498, essv6465013, essv5546458, essv5557997, essv6311145, essv5911659, essv6250762, essv5547951, essv5481385, essv5742597
SamplesHG00313, HG00734, HG00252, HG00536, NA20771, HG00705, NA20510, HG00596, HG01082, HG00173, HG00326, NA18608, HG00683, HG00334, NA19678, HG00177, HG00319, NA19472, HG00266, HG01140, NA18991, NA19083, HG00330, NA11995, NA18593, NA18982, HG00243, HG00357, NA18634, NA20589, HG00237, NA20769, NA12716, NA12892, NA18633, NA20536, NA20753, NA18558, HG00501, NA18942, HG00116, NA20797, HG00512, NA20813, NA12891, NA18602, NA12878, NA19717, HG00142, HG00566, HG00641, HG01489, HG00136
Known GenesVAV3
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2675258
Sample Size1151
Observed Gain0
Observed Loss53
Observed Complex0

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