A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660719



Internal ID9580138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:55400199..55403355hg38UCSC Ensembl
Outerchr4:55399828..55403725hg38UCSC Ensembl
Innerchr4:56266366..56269522hg19UCSC Ensembl
Outerchr4:56265995..56269892hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg383898
hg193898
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5932635, essv6283916, essv6493098, essv5953218, essv6409367, essv6086267, essv5927366, essv6276521, essv6537011, essv6001365, essv5903910, essv6316706, essv5625838, essv6097744, essv6146236, essv6592804, essv6150280, essv6579958, essv5597413, essv5938252, essv5599678, essv6202657, essv5669271, essv6436611, essv6221387, essv5514794, essv5944834, essv5535117, essv6328825, essv6586274, essv6147982, essv6117242, essv5752454, essv6355079, essv6457494, essv5753858, essv6593388, essv6039689, essv6474863, essv6521544, essv5573057, essv5627726, essv5472919, essv5826884, essv5615700, essv5949118, essv6052763, essv5737423, essv5702070, essv6442172, essv6590731, essv6081563, essv5741310
SamplesNA19394, NA19466, NA19399, NA19359, NA19355, NA19443, NA19446, NA19374, NA19373, NA19379, NA19382, NA19448, NA19384, NA19383, NA19372, NA19471, NA19456, NA19451, NA19437, NA19462, NA19347, NA19327, NA19455, NA19449, NA19453, NA19338, NA19452, NA19469, NA19318, NA19395, NA19436, NA19375, NA19440, NA19434, NA19444, NA19380, NA19334, NA19470, NA19428, NA19324, NA19311, NA19467, NA19360, NA19398, NA19438, NA19472, NA19468, NA19474, NA19430, NA19312, NA19463, NA19429, NA19431
Known GenesTMEM165
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660719
Frequency
Sample Size1151
Observed Gain0
Observed Loss53
Observed Complex0
Frequencyn/a


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