A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34470



Internal ID12990508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:22739747..23476656hg38UCSC Ensembl
Innerchr19:22922549..23659458hg19UCSC Ensembl
Innerchr19:22714389..23451298hg18UCSC Ensembl
Innerchr19:22714389..23451298hg17UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38736910
hg19736910
hg18736910
hg17736910
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv138e55
Supporting Variantsessv6988334, essv6985438, essv6980929, essv6980931, essv6980930
SamplesNA19145
Known GenesLOC100132815, ZNF724P, ZNF728, ZNF730, ZNF91, ZNF99
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)esv34470
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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