A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990479



Internal ID12635733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6418903..6513180hg38UCSC Ensembl
Innerchr12:6528069..6622346hg19UCSC Ensembl
Innerchr12:6398330..6492607hg18UCSC Ensembl
Innerchr12:6398330..6492607hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3894278
hg1994278
hg1894278
hg1794278
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34390
Supporting Variants
SamplesNA19172
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)essv6990479
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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