A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752020



Internal ID12638886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:106720427..106966306hg38UCSC Ensembl
Innerchr4:107641584..107887463hg19UCSC Ensembl
Innerchr4:107861033..108106912hg18UCSC Ensembl
Innerchr4:107999188..108245067hg17UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg38245880
hg19245880
hg18245880
hg17245880
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982960, essv6982959, essv6982961, essv6988606
SamplesBEC_529
Known GenesDKK2
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)esv2752020
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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