A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657853



Internal ID9923958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:56682465..56683267hg38UCSC Ensembl
Outerchr8:56682427..56683317hg38UCSC Ensembl
Innerchr8:57595024..57595826hg19UCSC Ensembl
Outerchr8:57594986..57595876hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38891
hg19891
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5497227, essv5740464, essv5798323, essv5901693
SamplesNA19917, NA18934, NA18501, NA19116
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657853
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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