A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984081



Internal ID12977649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117052896..117165215hg38UCSC Ensembl
Innerchr2:117810472..117922791hg19UCSC Ensembl
Innerchr2:117526942..117639261hg18UCSC Ensembl
Innerchr2:117526702..117639021hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38112320
hg19112320
hg18112320
hg17112320
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751817
Supporting Variants
SamplesBEC_768
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984081
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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