A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12841058



Internal ID4609053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:73814130..73817909hg38UCSC Ensembl
Innerchr7:73814181..73817859hg38UCSC Ensembl
Outerchr7:73814080..73817960hg38UCSC Ensembl
chr7:73228460..73232239hg19UCSC Ensembl
Innerchr7:73228511..73232189hg19UCSC Ensembl
Outerchr7:73228410..73232290hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg383780
hg193780
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613691
Supporting Variants
SamplesHG04144
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12841058
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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