A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5900709



Internal ID8792145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:48628696..48629418hg38UCSC Ensembl
Outerchr13:48628659..48629468hg38UCSC Ensembl
Innerchr13:49202832..49203554hg19UCSC Ensembl
Outerchr13:49202795..49203604hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38810
hg19810
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666938
Supporting Variants
SamplesHG00236
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5900709
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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