A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987565



Internal ID12976838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:59858252..59959752hg38UCSC Ensembl
Innerchr12:60252033..60353533hg19UCSC Ensembl
Innerchr12:58538300..58639800hg18UCSC Ensembl
Innerchr12:58538300..58639800hg17UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38101501
hg19101501
hg18101501
hg17101501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751107
Supporting Variants
SamplesBEC_692
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987565
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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