A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12937020



Internal ID4415062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117027020..117055732hg38UCSC Ensembl
chr7:116667074..116695786hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg3828713
hg1928713
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614707
Supporting Variants
SamplesHG03928
Known GenesST7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12937020
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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