A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676732



Internal ID9942837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:149626524..149628199hg38UCSC Ensembl
Outerchr6:149626367..149628370hg38UCSC Ensembl
Innerchr6:149947660..149949335hg19UCSC Ensembl
Outerchr6:149947503..149949506hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg382004
hg192004
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6214336
SamplesNA19469
Known GenesKATNA1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676732
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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