A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752047



Internal ID12985599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:44966555..45070189hg38UCSC Ensembl
Innerchr4:44968572..45072206hg19UCSC Ensembl
Innerchr4:44663329..44766963hg18UCSC Ensembl
Innerchr4:44809500..44913134hg17UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38103635
hg19103635
hg18103635
hg17103635
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982780, essv6986256, essv6982779, essv6982778, essv6982781
SamplesBEC_592
Known Genes
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)esv2752047
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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