A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987246



Internal ID12637270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19981133..22067185hg38UCSC Ensembl
Innerchr15:20186386..22355136hg19UCSC Ensembl
Innerchr15:18446400..19856500hg18UCSC Ensembl
Innerchr15:18446400..19856500hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382086053
hg192168751
hg181410101
hg171410101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751361
Supporting Variants
SamplesSPC_4
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987246
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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