A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986199



Internal ID12627197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19981155..20359322hg38UCSC Ensembl
Innerchr15:20186408..20564575hg19UCSC Ensembl
Innerchr15:18446422..18824589hg18UCSC Ensembl
Innerchr15:18446422..18824589hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38378168
hg19378168
hg18378168
hg17378168
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751330
Supporting Variants
SamplesBEC_462
Known GenesCHEK2P2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986199
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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