A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787831



Internal ID18829497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:45307172..46327637hg38UCSC Ensembl
Innerchr15:45599370..46619835hg19UCSC Ensembl
Innerchr15:43386662..44407127hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg381020466
hg191020466
hg181020466
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892684
Supporting Variants
Samples
Known GenesBLOC1S6, C15orf48, GATM, GATM-AS1, HMGN2P46, MIR147B, SLC30A4, SPATA5L1, SQRDL
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=167
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787831
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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