A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613034



Internal ID6999932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:46161480..46161870hg38UCSC Ensembl
Innerchr7:46161481..46161869hg38UCSC Ensembl
Outerchr7:46161479..46161871hg38UCSC Ensembl
chr7:46201078..46201468hg19UCSC Ensembl
Innerchr7:46201079..46201467hg19UCSC Ensembl
Outerchr7:46201077..46201469hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38391
hg19391
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12758343, essv12758341, essv12758342
SamplesHG02009, HG01889, HG02332
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613034
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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