A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667184



Internal ID9933289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:68201460..68202333hg38UCSC Ensembl
chr5:67497288..67498161hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg38874
hg19874
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5845612, essv6149546, essv6575725, essv5543482, essv6003680, essv6353005, essv5765235, essv6417022, essv6546582, essv6503086, essv6361125, essv6257796, essv5433880, essv6448546
SamplesNA19466, NA19914, HG01188, NA20317, NA19383, NA19189, NA19391, NA19449, NA19395, NA19436, HG01551, NA18873, NA19213, NA19346
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667184
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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