A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675924



Internal ID9942029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:44833695..44853097hg38UCSC Ensembl
Outerchr13:44833658..44853147hg38UCSC Ensembl
Innerchr13:45407831..45427233hg19UCSC Ensembl
Outerchr13:45407794..45427283hg19UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg3819490
hg1919490
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5654635
SamplesNA18565
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675924
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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