A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34275



Internal ID12643628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:100977272..101482551hg38UCSC Ensembl
Innerchr15:101517477..102022756hg19UCSC Ensembl
Innerchr15:99335000..99840279hg18UCSC Ensembl
Innerchr15:99335000..99840279hg17UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38505280
hg19505280
hg18505280
hg17505280
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979020, essv6979018, essv6979017, essv6986771, essv6986772, essv6990316, essv6979019
SamplesNA12815
Known GenesCHSY1, LOC100507472, LRRK1, PCSK6, SNRPA1, VIMP
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)esv34275
Frequency
Sample Size771
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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