A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790734



Internal ID18823881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:23375712..24546172hg38UCSC Ensembl
Innerchr15:23620859..24791319hg19UCSC Ensembl
Innerchr15:21172300..22342412hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg381170461
hg191170461
hg181170113
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892632
Supporting Variants
Samples
Known GenesMAGEL2, MIR4508, MKRN3, NDN, PWRN2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=231
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790734
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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