A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5815348



Internal ID9760302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:42412257..42416544hg38UCSC Ensembl
Outerchr5:42412220..42416594hg38UCSC Ensembl
Innerchr5:42412359..42416646hg19UCSC Ensembl
Outerchr5:42412322..42416696hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg384375
hg194375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2677967
Supporting Variants
SamplesNA19713
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5815348
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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