A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12656621



Internal ID2658437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:78321..231876hg38UCSC Ensembl
chr7:78321..231876hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38153556
hg19153556
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611747
Supporting Variants
SamplesNA19731
Known GenesFAM20C, LOC100507642
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12656621
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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