A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981742



Internal ID12625937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20217334..22472558hg38UCSC Ensembl
Innerchr15:20422587..22791922hg19UCSC Ensembl
Innerchr15:18682601..20343286hg18UCSC Ensembl
Innerchr15:18682601..20343286hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382255225
hg192369336
hg181660686
hg171660686
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751358
Supporting Variants
SamplesBEC_333
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)essv6981742
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer