A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986454



Internal ID12629753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:235982356..236042356hg38UCSC Ensembl
Innerchr2:236891000..236951000hg19UCSC Ensembl
Innerchr2:236555739..236615739hg18UCSC Ensembl
Innerchr2:236673000..236733000hg17UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg3860001
hg1960001
hg1860001
hg1760001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751845
Supporting Variants
SamplesBEC_666
Known GenesAGAP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986454
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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