A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986258



Internal ID12628859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19981155..22288239hg38UCSC Ensembl
Innerchr15:20186408..22576190hg19UCSC Ensembl
Innerchr15:18446422..20077554hg18UCSC Ensembl
Innerchr15:18446422..20077554hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382307085
hg192389783
hg181631133
hg171631133
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751334
Supporting Variants
SamplesBEC_593
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, 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)essv6986258
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