A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12910892



Internal ID5333232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:101737597..101740818hg38UCSC Ensembl
Innerchr7:101737597..101740818hg38UCSC Ensembl
Outerchr7:101737097..101741318hg38UCSC Ensembl
chr7:101380877..101384098hg19UCSC Ensembl
Innerchr7:101380877..101384098hg19UCSC Ensembl
Outerchr7:101380377..101384598hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg383222
hg193222
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614338
Supporting Variants
SamplesNA18873
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12910892
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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