A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11026136



Internal ID5433668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:61594967..61641874hg38UCSC Ensembl
chr3:61580641..61627548hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3846908
hg1946908
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596346
Supporting Variants
SamplesNA18957
Known GenesPTPRG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11026136
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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