A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664824



Internal ID9930929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:8179456..8180411hg38UCSC Ensembl
Outerchr5:8179419..8180461hg38UCSC Ensembl
Innerchr5:8179569..8180524hg19UCSC Ensembl
Outerchr5:8179532..8180574hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381043
hg191043
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5472830
SamplesNA20802
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664824
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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