A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607942



Internal ID6994873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:4252566..4454126hg38UCSC Ensembl
Innerchr6:4252566..4454126hg38UCSC Ensembl
Outerchr6:4252066..4454626hg38UCSC Ensembl
chr6:4252800..4454360hg19UCSC Ensembl
Innerchr6:4252800..4454360hg19UCSC Ensembl
Outerchr6:4252300..4454860hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg38201561
hg19201561
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12179412, essv12179413
SamplesNA20760, HG01630
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607942
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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