A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892684



Internal ID18836818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:45307172..46327637hg38UCSC Ensembl
Outerchr15:45307172..46327637hg38UCSC Ensembl
Innerchr15:45599370..46619835hg19UCSC Ensembl
Outerchr15:45599370..46619835hg19UCSC Ensembl
Innerchr15:43386662..44407127hg18UCSC Ensembl
Outerchr15:43386662..44407127hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg381020466
hg191020466
hg181020466
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25787831
Samples
Known GenesBLOC1S6, C15orf48, GATM, GATM-AS1, HMGN2P46, MIR147B, SLC30A4, SPATA5L1, SQRDL
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892684
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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