A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12182908



Internal ID1732504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:6801397..6810847hg38UCSC Ensembl
Innerchr6:6801397..6810847hg38UCSC Ensembl
Outerchr6:6801257..6811019hg38UCSC Ensembl
chr6:6801630..6811080hg19UCSC Ensembl
Innerchr6:6801630..6811080hg19UCSC Ensembl
Outerchr6:6801490..6811252hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg389451
hg199451
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607999
Supporting Variants
SamplesHG01605
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12182908
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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