A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984115



Internal ID12977692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:230315780..230415780hg38UCSC Ensembl
Innerchr2:231180495..231280495hg19UCSC Ensembl
Innerchr2:230888739..230988739hg18UCSC Ensembl
Innerchr2:231006000..231106000hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38100001
hg19100001
hg18100001
hg17100001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751844
Supporting Variants
SamplesBEC_775
Known GenesSP140L
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984115
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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