A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979018



Internal ID12632813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:100981103..101480843hg38UCSC Ensembl
Innerchr15:101521308..102021048hg19UCSC Ensembl
Innerchr15:99338831..99838571hg18UCSC Ensembl
Innerchr15:99338831..99838571hg17UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38499741
hg19499741
hg18499741
hg17499741
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34275
Supporting Variants
SamplesNA12815
Known GenesCHSY1, LOC100507472, LRRK1, PCSK6, SNRPA1, VIMP
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979018
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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