A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609122



Internal ID6649353
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1184e214
Supporting Variantsessv12369934, essv12369931, essv12369932, essv12369933, essv12369935
SamplesNA20762, NA19138, NA20299, HG00155, HG01954
Known GenesPRIM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609122
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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