A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658057



Internal ID9924162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:101437979..101438944hg38UCSC Ensembl
chr7:101081260..101082225hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38966
hg19966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5587205, essv5807996, essv5595810, essv5513849, essv6344983, essv6235148, essv6473326, essv6004632, essv5472911, essv5793175, essv5483447, essv5556870, essv5651320, essv6202168, essv6409337, essv5769145, essv5717614, essv5637971, essv6342698, essv5409057, essv5808549, essv5799777, essv5636194, essv6243509, essv5973626, essv5825746, essv6211974, essv5442821, essv5808891, essv6085129, essv6208035, essv5876632, essv6274614, essv6217056, essv6530021, essv6385968, essv6570799
SamplesHG01462, NA11995, HG00315, NA20816, NA12399, HG01522, HG00271, HG00641, HG00173, NA11992, NA20768, HG00270, NA12282, HG00120, NA20278, HG01519, HG00156, HG01440, HG00118, HG01198, HG00253, NA12748, HG00133, NA20535, NA12489, HG01360, NA20314, NA19788, HG00152, HG00136, NA20530, NA20792, NA12347, HG00174, NA12890, NA07000, HG01112
Known GenesCOL26A1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658057
Frequency
Sample Size1151
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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