A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980431



Internal ID12635747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6424559..6513180hg38UCSC Ensembl
Innerchr12:6533725..6622346hg19UCSC Ensembl
Innerchr12:6403986..6492607hg18UCSC Ensembl
Innerchr12:6403986..6492607hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3888622
hg1988622
hg1888622
hg1788622
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34325
Supporting Variants
SamplesNA19173
Known GenesCD27, CD27-AS1, MRPL51, NCAPD2, SCARNA10, TAPBPL, VAMP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980431
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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