A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275340



Internal ID1560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:142300810..142301010hg38UCSC Ensembl
Outerchr6:142299268..142303431hg38UCSC Ensembl
Innerchr6:142621947..142622147hg19UCSC Ensembl
Outerchr6:142620405..142624568hg19UCSC Ensembl
Innerchr6:142663640..142663840hg18UCSC Ensembl
Outerchr6:142662098..142666261hg18UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg384164
hg194164
hg184164
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586054, essv2585440
Samples
Known GenesGPR126
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275340
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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