A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678715



Internal ID9598134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:110124239..110143707hg38UCSC Ensembl
chr5:109459940..109479408hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3819469
hg1919469
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1037e199
Supporting Variantsessv6060028, essv6467582, essv5425574, essv5540299, essv5882789, essv6372984, essv6437383, essv6405637, essv5490425, essv6457075, essv6075486, essv6596057, essv6380558, essv6271207, essv5846086, essv5663429, essv6442760, essv6334550, essv5509280, essv5585383, essv6478205, essv5814123, essv5533991, essv6181860, essv5606115, essv5654050, essv6042076, essv5924431, essv5561806, essv5945033, essv5892787, essv5873097, essv6525877, essv5964412, essv5785857, essv6055985, essv6531811, essv6352980, essv5637300, essv6100853, essv6306287, essv5946112, essv5788027, essv5395978
SamplesNA19399, NA19350, NA19359, NA19393, NA19443, NA19446, NA19382, NA19315, NA19457, NA19313, NA19384, NA19404, NA19383, NA19385, NA19471, NA19317, NA19445, NA19347, NA19391, NA19327, NA19449, NA19453, NA19338, NA19469, NA19318, NA19375, NA19321, NA19434, NA19473, NA19435, NA19444, NA19331, NA19470, NA19428, NA19467, NA19360, NA19398, NA19328, NA19438, NA19472, NA19468, NA19474, NA19316, NA19312
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678715
Frequency
Sample Size1151
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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