A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676210



Internal ID9942315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:191946307..191950982hg38UCSC Ensembl
chr1:191915437..191920112hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg384676
hg194676
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv85e199
Supporting Variantsessv5727611, essv5465477, essv6165017, essv5745582, essv6230455, essv6313411, essv6505210, essv5647844, essv6461036, essv5755089, essv6091528, essv5554590, essv5595942, essv5412129, essv5490372, essv5622944, essv6449879, essv5731984, essv6420789, essv5699645, essv5642803, essv5625381, essv5850492, essv5813726, essv6567343, essv6293972, essv6413292, essv6466787, essv6517073, essv5927830, essv6271333, essv6143370, essv5611252, essv5810061, essv6082780, essv6363780, essv5778482, essv5966257, essv6010628, essv5696342, essv5792924, essv5911867, essv5754184, essv6022153, essv6073597, essv5442510, essv6416492, essv6120622, essv5835347, essv5988602, essv6233008
SamplesNA19397, NA19466, NA19355, NA19443, NA19396, NA19382, NA19762, NA19448, NA19457, NA19384, NA19372, NA19385, NA19471, NA19722, NA19445, NA19789, NA19451, NA19437, NA19403, NA19462, NA19347, NA19663, NA19461, NA19449, NA19453, NA19452, NA19318, NA19390, NA19321, NA19434, NA19473, NA19732, NA19444, NA19380, NA19470, NA19428, NA19324, NA19311, NA19467, NA19360, NA19376, NA19398, NA19328, NA19472, NA19474, NA19780, NA19430, NA19312, NA19429, NA19346, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676210
Frequency
Sample Size1151
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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