A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984458



Internal ID12977025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:63052182..63110172hg38UCSC Ensembl
Innerchr12:63445962..63503952hg19UCSC Ensembl
Innerchr12:61732229..61790219hg18UCSC Ensembl
Innerchr12:61732229..61790219hg17UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg3857991
hg1957991
hg1857991
hg1757991
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751108
Supporting Variants
SamplesBEC_708
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984458
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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