A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984114



Internal ID12977693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:230315169..230393735hg38UCSC Ensembl
Innerchr2:231179884..231258450hg19UCSC Ensembl
Innerchr2:230888128..230966694hg18UCSC Ensembl
Innerchr2:231005389..231083955hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3878567
hg1978567
hg1878567
hg1778567
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984114
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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