A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675258



Internal ID9594677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:107860349..107862862hg38UCSC Ensembl
chr1:108402971..108405484hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg382514
hg192514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5508413, essv5723608, essv5824699, essv6417868, essv5728019, essv6055268, essv5868084, essv6079154, essv6311145, essv6053173, essv5481385, essv5508010, essv5767799, essv5547951, essv6590480, essv5738498, essv5624798, essv5756350, essv6526164, essv5718819, essv5415516, essv5911659, essv5536202, essv6179544, essv5772803, essv6013196, essv5557997, essv6402240, essv5665325, essv6576131, essv6480769, essv5951058, essv5742597, essv6043940, essv6465013, essv5722266, essv6062419, essv6407532, essv6250762, essv5423489, essv5420663, essv6245502, essv5706170, essv6550425, essv5993297, essv6582311, essv5443575, essv6177948, essv5909910, essv5443813, essv6456863, essv5546458, essv6395002
SamplesHG00536, HG00142, NA11995, NA20813, HG00566, HG00177, NA18633, NA20771, NA18602, HG01140, HG00641, HG00501, NA20589, NA19678, HG00173, NA18982, NA12891, NA18558, HG00330, NA20769, NA18942, HG00334, HG00243, HG00512, HG00683, HG00705, HG00326, NA20753, HG00313, HG00266, HG00596, NA12878, NA20536, NA18991, NA19717, NA12892, NA18634, NA18593, NA18608, NA12716, HG00357, HG00734, HG00136, HG00237, HG00319, HG00116, NA19083, NA20797, HG01489, NA19472, NA20510, HG00252, HG01082
Known GenesVAV3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675258
Frequency
Sample Size1151
Observed Gain0
Observed Loss53
Observed Complex0
Frequencyn/a


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