A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12369932



Internal ID2371748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57341061..60368559hg38UCSC Ensembl
chr6:57205859..57340406hg19UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg383027499
hg19134548
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609122
Supporting Variants
SamplesHG01954
Known GenesPRIM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12369932
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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