A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750830



Internal ID12637696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:241861796..242140055hg38UCSC Ensembl
Innerchr1:242025098..242303357hg19UCSC Ensembl
Innerchr1:240091721..240369980hg18UCSC Ensembl
Innerchr1:238351139..238629398hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38278260
hg19278260
hg18278260
hg17278260
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv16e55
Supporting Variantsessv6983698, essv6988701, essv6983697
SamplesBEC_614
Known GenesEXO1, MAP1LC3C, PLD5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2750830
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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