A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12779180



Internal ID6801804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:54140032..54153961hg38UCSC Ensembl
Innerchr7:54140032..54153961hg38UCSC Ensembl
Outerchr7:54139532..54154461hg38UCSC Ensembl
chr7:54207725..54221654hg19UCSC Ensembl
Innerchr7:54207725..54221654hg19UCSC Ensembl
Outerchr7:54207225..54222154hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg3813930
hg1913930
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613212
Supporting Variants
SamplesNA20890
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12779180
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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