A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12930382



Internal ID6330849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:112408640..112415167hg38UCSC Ensembl
Innerchr7:112408640..112415167hg38UCSC Ensembl
Outerchr7:112408140..112415667hg38UCSC Ensembl
chr7:112048695..112055222hg19UCSC Ensembl
Innerchr7:112048695..112055222hg19UCSC Ensembl
Outerchr7:112048195..112055722hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg386528
hg196528
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614623
Supporting Variants
SamplesNA19923
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12930382
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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