A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12972723



Internal ID3103641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:131907410..131912080hg38UCSC Ensembl
Innerchr7:131907412..131912079hg38UCSC Ensembl
Outerchr7:131907409..131912082hg38UCSC Ensembl
chr7:131592169..131596839hg19UCSC Ensembl
Innerchr7:131592171..131596838hg19UCSC Ensembl
Outerchr7:131592168..131596841hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg384671
hg194671
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615049
Supporting Variants
SamplesHG02725
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12972723
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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