A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678604



Internal ID9598023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:31004465..31007854hg38UCSC Ensembl
Outerchr15:31004308..31008007hg38UCSC Ensembl
Innerchr15:31296668..31300057hg19UCSC Ensembl
Outerchr15:31296511..31300210hg19UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg383700
hg193700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5451473
SamplesNA19374
Known GenesTRPM1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678604
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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