A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12966887



Internal ID3159166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:129516671..129528144hg38UCSC Ensembl
Innerchr7:129517171..129527644hg38UCSC Ensembl
Outerchr7:129515671..129529144hg38UCSC Ensembl
chr7:129156512..129167985hg19UCSC Ensembl
Innerchr7:129157012..129167485hg19UCSC Ensembl
Outerchr7:129155512..129168985hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3811474
hg1911474
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615000
Supporting Variants
SamplesHG02783
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12966887
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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