A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12669873



Internal ID2671689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:3144754..3298791hg38UCSC Ensembl
chr7:3184388..3338423hg19UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg38154038
hg19154036
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611865
Supporting Variants
SamplesHG00653
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12669873
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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