A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671398



Internal ID9937503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:5753083..5763554hg38UCSC Ensembl
chr5:5753196..5763667hg19UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg3810472
hg1910472
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5939801, essv6183262
SamplesNA19443, NA19470
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671398
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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