A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677169



Internal ID9943274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:133798025..133800981hg38UCSC Ensembl
Outerchr5:133797654..133801351hg38UCSC Ensembl
Innerchr5:133133716..133136672hg19UCSC Ensembl
Outerchr5:133133345..133137042hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg383698
hg193698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1040e199
Supporting Variantsessv5627294, essv5595744, essv6136152, essv5650443, essv6285953, essv5678965, essv5400482, essv5701346, essv5508381, essv5917730, essv6360359, essv5889835, essv5818073, essv6421555, essv5850984, essv6187851
SamplesNA19397, NA19355, NA19446, NA19374, NA19381, NA19448, NA19385, NA19471, NA19347, NA19453, NA19338, NA19452, NA19436, NA19401, NA19440, NA19430
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677169
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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