A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981103



Internal ID12626129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19981155..20407799hg38UCSC Ensembl
Innerchr15:20186408..20613052hg19UCSC Ensembl
Innerchr15:18446422..18873066hg18UCSC Ensembl
Innerchr15:18446422..18873066hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38426645
hg19426645
hg18426645
hg17426645
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751310
Supporting Variants
SamplesBEC_353
Known GenesCHEK2P2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981103
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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