A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12666801



Internal ID2668619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:1557046..1567824hg38UCSC Ensembl
chr7:1596682..1607460hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3810779
hg1910779
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611812
Supporting Variants
SamplesHG03911
Known GenesPSMG3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12666801
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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