A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12973573



Internal ID6915674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:132751287..132761577hg38UCSC Ensembl
Innerchr7:132751287..132761577hg38UCSC Ensembl
Outerchr7:132751103..132761861hg38UCSC Ensembl
chr7:132436047..132446337hg19UCSC Ensembl
Innerchr7:132436047..132446337hg19UCSC Ensembl
Outerchr7:132435863..132446621hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg3810291
hg1910291
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615060
Supporting Variants
SamplesNA21115
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12973573
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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