A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12897835



Internal ID1436211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:94128144..94136958hg38UCSC Ensembl
Innerchr7:94128294..94136808hg38UCSC Ensembl
Outerchr7:94127994..94137108hg38UCSC Ensembl
chr7:93757456..93766270hg19UCSC Ensembl
Innerchr7:93757606..93766120hg19UCSC Ensembl
Outerchr7:93757306..93766420hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg388815
hg198815
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614179
Supporting Variants
SamplesHG01323
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12897835
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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