A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5445599



Internal ID9648598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:49900260..49905929hg38UCSC Ensembl
Outerchr13:49900223..49905979hg38UCSC Ensembl
Innerchr13:50474396..50480065hg19UCSC Ensembl
Outerchr13:50474359..50480115hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg385757
hg195757
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2675395
Supporting Variants
SamplesNA19380
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5445599
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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