A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979931



Internal ID12634299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19986488..22472558hg38UCSC Ensembl
Innerchr15:20191741..22863001hg19UCSC Ensembl
Innerchr15:18451755..20414442hg18UCSC Ensembl
Innerchr15:18451755..20414442hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382486071
hg192671261
hg181962688
hg171962688
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34361
Supporting Variants
SamplesNA18861
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, TUBGCP5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979931
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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