A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12758771



Internal ID5708134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:46836369..46846361hg38UCSC Ensembl
Innerchr7:46836419..46846311hg38UCSC Ensembl
Outerchr7:46836281..46846449hg38UCSC Ensembl
chr7:46875967..46885959hg19UCSC Ensembl
Innerchr7:46876017..46885909hg19UCSC Ensembl
Outerchr7:46875879..46886047hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg389993
hg199993
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613050
Supporting Variants
SamplesNA19092
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12758771
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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