A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666703



Internal ID9932808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:40447210..40451182hg38UCSC Ensembl
chr15:40739409..40743381hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg383973
hg193973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5932067, essv5640124
SamplesNA19404, NA19429
Known GenesBAHD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666703
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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