A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990238



Internal ID12635296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20246097..22472558hg38UCSC Ensembl
Innerchr15:20451350..22784483hg19UCSC Ensembl
Innerchr15:18711364..20335847hg18UCSC Ensembl
Innerchr15:18711364..20335847hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382226462
hg192333134
hg181624484
hg171624484
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34301
Supporting Variants
SamplesNA19100
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L1, GOLGA6L6, GOLGA8CP, GOLGA8DP, HERC2P3, LOC646214, LOC727924, MIR4509-1, MIR4509-2, MIR4509-3, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990238
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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