A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34468



Internal ID12643820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:237849470..238562659hg38UCSC Ensembl
Innerchr1:238012770..238725959hg19UCSC Ensembl
Innerchr1:236079393..236792582hg18UCSC Ensembl
Innerchr1:234338811..235052000hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38713190
hg19713190
hg18713190
hg17713190
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986949, essv6979802, essv6979804, essv6979803, essv6986950
SamplesNA18633
Known GenesLINC01139, LOC100130331, ZP4
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)esv34468
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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