A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979173



Internal ID12633058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20217334..22472558hg38UCSC Ensembl
Innerchr15:20422587..22777875hg19UCSC Ensembl
Innerchr15:18682601..20329239hg18UCSC Ensembl
Innerchr15:18682601..20329239hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382255225
hg192355289
hg181646639
hg171646639
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34219
Supporting Variants
SamplesNA18502
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)essv6979173
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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