A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34620



Internal ID12643970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:99817764..100051787hg38UCSC Ensembl
Innerchr15:100357969..100591992hg19UCSC Ensembl
Innerchr15:98175492..98409515hg18UCSC Ensembl
Innerchr15:98175492..98409515hg17UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38234024
hg19234024
hg18234024
hg17234024
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6980891, essv6985427, essv6980893, essv6985426, essv6980892
SamplesNA19141
Known GenesADAMTS17
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)esv34620
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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