A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750831



Internal ID12637697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:241861796..242169657hg38UCSC Ensembl
Innerchr1:242025098..242332959hg19UCSC Ensembl
Innerchr1:240091721..240399582hg18UCSC Ensembl
Innerchr1:238351139..238659000hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38307862
hg19307862
hg18307862
hg17307862
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv16e55
Supporting Variantsessv6987465, essv6987464, essv6983978, essv6983979
SamplesBEC_74
Known GenesEXO1, MAP1LC3C, PLD5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2750831
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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