A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986240



Internal ID12628709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961836..22472558hg38UCSC Ensembl
Innerchr15:20167089..22799908hg19UCSC Ensembl
Innerchr15:18427103..20351272hg18UCSC Ensembl
Innerchr15:18427103..20351272hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382510723
hg192632820
hg181924170
hg171924170
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751359
Supporting Variants
SamplesBEC_58
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)essv6986240
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