A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670782



Internal ID9936887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:16309297..16362550hg38UCSC Ensembl
Outerchr7:16309253..16362600hg38UCSC Ensembl
Innerchr7:16348922..16402175hg19UCSC Ensembl
Outerchr7:16348878..16402225hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg3853348
hg1953348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1185e199
Supporting Variantsessv6218040, essv5457413, essv5627725, essv5500967, essv5940174, essv6409611, essv6541897, essv6543601
SamplesNA18563, HG00448, NA18635, NA18558, NA18574, HG00543, HG00560, HG00607
Known GenesISPD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670782
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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