A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12932986



Internal ID2370251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:115166342..115167971hg38UCSC Ensembl
Innerchr7:115166398..115167916hg38UCSC Ensembl
Outerchr7:115166287..115168027hg38UCSC Ensembl
chr7:114806396..114808025hg19UCSC Ensembl
Innerchr7:114806452..114807970hg19UCSC Ensembl
Outerchr7:114806341..114808081hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg381630
hg191630
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614669
Supporting Variants
SamplesHG02102
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12932986
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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