A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988795



Internal ID12976876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117065723..117102978hg38UCSC Ensembl
Innerchr2:117823299..117860554hg19UCSC Ensembl
Innerchr2:117539769..117577024hg18UCSC Ensembl
Innerchr2:117539529..117576784hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3837256
hg1937256
hg1837256
hg1737256
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751816
Supporting Variants
SamplesBEC_695
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988795
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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