A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6044048



Internal ID9468745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:76015360..76017857hg38UCSC Ensembl
Outerchr13:76015301..76017907hg38UCSC Ensembl
Innerchr13:76589496..76591993hg19UCSC Ensembl
Outerchr13:76589437..76592043hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg382607
hg192607
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2666690
Supporting Variants
SamplesNA18940
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6044048
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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