A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2586054



Internal ID947
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 loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275340
Supporting Variants
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)essv2586054
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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