A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978753



Internal ID12979056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:67756677..67823072hg38UCSC Ensembl
Innerchr6:68466570..68532965hg19UCSC Ensembl
Innerchr6:68523291..68589686hg18UCSC Ensembl
Innerchr6:68523291..68589686hg17UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3866396
hg1966396
hg1866396
hg1766396
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34754
Supporting Variants
SamplesNA12234
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978753
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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