A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275245



Internal ID348151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:50925526..50925566hg38UCSC Ensembl
Outerchr6:50925015..50931548hg38UCSC Ensembl
Innerchr6:50893239..50893279hg19UCSC Ensembl
Outerchr6:50892728..50899261hg19UCSC Ensembl
Innerchr6:51001198..51001238hg18UCSC Ensembl
Outerchr6:51000687..51007220hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg386534
hg196534
hg186534
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586148
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275245
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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