A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981876



Internal ID12627384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:37448443..37671411hg38UCSC Ensembl
Innerchr6:37416219..37639187hg19UCSC Ensembl
Innerchr6:37524197..37747165hg18UCSC Ensembl
Innerchr6:37524197..37747165hg17UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38222969
hg19222969
hg18222969
hg17222969
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752124
Supporting Variants
SamplesBEC_497
Known GenesCCDC167, CMTR1, MDGA1, MIR4462
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981876
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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