A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669746



Internal ID9589165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:98244338..98244694hg38UCSC Ensembl
Outerchr8:98243967..98245064hg38UCSC Ensembl
Innerchr8:99256566..99256922hg19UCSC Ensembl
Outerchr8:99256195..99257292hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg381098
hg191098
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5954381, essv5663049, essv5933849, essv5891095, essv5492782, essv5517623, essv5717393, essv5707684, essv6252856, essv6050237, essv6268020, essv6536687, essv5684081, essv6203836, essv6446496, essv5945318, essv5535053, essv5506455, essv6035717, essv5415073, essv6368520, essv6405868, essv6354545, essv6583129, essv6385030, essv5532074, essv6122298, essv5433066, essv5887859, essv5605428, essv6208995, essv5436988, essv5486940, essv6287263, essv6249401, essv5765614, essv6464859, essv6575479, essv6034236, essv6027996, essv6367284, essv6014257, essv6512780, essv5510678, essv5932866, essv5696057, essv5711984, essv6089370, essv6027713, essv6353512, essv6477097, essv5460323, essv6413624, essv6204271, essv6582409, essv5527249, essv5484063, essv6028001, essv5936372, essv6092269, essv5648218, essv6545953, essv5937152, essv6358995, essv6221614
SamplesNA19312, NA19445, NA19436, NA19404, NA19437, NA19401, NA19311, NA19469, NA19455, NA19435, NA19319, NA19430, NA19317, NA19359, NA19453, NA19451, NA19338, NA19449, NA19461, NA19379, NA19355, NA19472, NA19467, NA19438, NA19463, NA19428, NA19383, NA19390, NA19443, NA19471, NA19396, NA19397, NA19429, NA19440, NA19457, NA19316, NA19360, NA19313, NA19377, NA19380, NA19395, NA19372, NA19374, NA19375, NA19373, NA19382, NA19318, NA19462, NA19391, NA19394, NA19431, NA19434, NA19452, NA19399, NA19371, NA19470, NA19315, NA19346, NA19350, NA19473, NA19448, NA19468, NA19385, NA19466, NA19439
Known GenesNIPAL2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669746
Frequency
Sample Size1151
Observed Gain0
Observed Loss65
Observed Complex0
Frequencyn/a


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