A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980432



Internal ID12635739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6428373..6513183hg38UCSC Ensembl
Innerchr12:6537539..6622349hg19UCSC Ensembl
Innerchr12:6407800..6492610hg18UCSC Ensembl
Innerchr12:6407800..6492610hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3884811
hg1984811
hg1884811
hg1784811
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)essv6980432
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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