A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986294



Internal ID12628983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:138421112..138705640hg38UCSC Ensembl
Innerchr6:138742249..139026777hg19UCSC Ensembl
Innerchr6:138783942..139068470hg18UCSC Ensembl
Innerchr6:138783942..139068470hg17UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38284529
hg19284529
hg18284529
hg17284529
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752090
Supporting Variants
SamplesBEC_606
Known GenesFLJ46906, MIR3145, NHSL1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986294
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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