A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985659



Internal ID12625915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19981155..20994922hg38UCSC Ensembl
Innerchr15:20186408..21200251hg19UCSC Ensembl
Innerchr15:18446422..19464910hg18UCSC Ensembl
Innerchr15:18446422..19464910hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381013768
hg191013844
hg181018489
hg171018489
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751362
Supporting Variants
SamplesBEC_330
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985659
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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