A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12671508



Internal ID6783309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:4633339..4644768hg38UCSC Ensembl
chr7:4672970..4684399hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3811430
hg1911430
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611940
Supporting Variants
SamplesNA20882
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12671508
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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