A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983698



Internal ID12629099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:241879657..242122657hg38UCSC Ensembl
Innerchr1:242042959..242285959hg19UCSC Ensembl
Innerchr1:240109582..240352582hg18UCSC Ensembl
Innerchr1:238369000..238612000hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38243001
hg19243001
hg18243001
hg17243001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750830
Supporting Variants
SamplesBEC_614
Known GenesEXO1, MAP1LC3C, PLD5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983698
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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