A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983979



Internal ID12630803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:241876827..242122402hg38UCSC Ensembl
Innerchr1:242040129..242285704hg19UCSC Ensembl
Innerchr1:240106752..240352327hg18UCSC Ensembl
Innerchr1:238366170..238611745hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38245576
hg19245576
hg18245576
hg17245576
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750831
Supporting Variants
SamplesBEC_74
Known GenesEXO1, MAP1LC3C, PLD5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983979
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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