A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12779370



Internal ID1417340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:54447975..54462589hg38UCSC Ensembl
Innerchr7:54447975..54462589hg38UCSC Ensembl
Outerchr7:54447763..54463000hg38UCSC Ensembl
chr7:54515668..54530282hg19UCSC Ensembl
Innerchr7:54515668..54530282hg19UCSC Ensembl
Outerchr7:54515456..54530693hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg3814615
hg1914615
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613219
Supporting Variants
SamplesHG01284
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12779370
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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