A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675668



Internal ID9941773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:8270032..8294038hg38UCSC Ensembl
Outerchr19:8269661..8294408hg38UCSC Ensembl
Innerchr19:8334916..8358922hg19UCSC Ensembl
Outerchr19:8334545..8359292hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3824748
hg1924748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5436767, essv6135041, essv5757214, essv6507259, essv5629884, essv5605972, essv6462034, essv5771712, essv5550119, essv6501011, essv5477479, essv6336767, essv5772498, essv5901789, essv5668875, essv6151548, essv6030720, essv5649517, essv6303459, essv6055027, essv5711556, essv6324524, essv6146558, essv6543959, essv6215600, essv5410715, essv5864072, essv6008447, essv6147072, essv6182476, essv5924561, essv5444207, essv6251472, essv5981596, essv5549072, essv5473948, essv5512555, essv5754155, essv5515774, essv6565318, essv5696182, essv5697908, essv5924181, essv5771912, essv6412994, essv6040651, essv6240021, essv6426729, essv6109164, essv5887646, essv6426845, essv5609781, essv5593356, essv5798220, essv6449801, essv6499760, essv5759088, essv5454721, essv6223823, essv6484723, essv5854130, essv5999196, essv5725910, essv5518931, essv5536193, essv5937470, essv5622359, essv6484304
SamplesNA19397, NA19466, NA19399, NA19350, NA19359, NA19393, NA19377, NA19443, NA19446, NA19374, NA19396, NA19373, NA19379, NA19315, NA19448, NA19457, NA19384, NA19404, NA19372, NA19371, NA19385, NA19471, NA19317, NA19456, NA19451, NA19437, NA19403, NA19462, NA19347, NA19391, NA19327, NA19455, NA19461, NA19449, NA19453, NA19338, NA19469, NA19318, NA19395, NA19436, NA19401, NA19375, NA19440, NA19390, NA19321, NA19434, NA19473, NA19435, NA19444, NA19380, NA19439, NA19470, NA19428, NA19311, NA19467, NA19376, NA19398, NA19328, NA19438, NA19472, NA19468, NA19474, NA19430, NA19316, NA19312, NA19463, NA19429, NA19346
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675668
Frequency
Sample Size1151
Observed Gain0
Observed Loss68
Observed Complex0
Frequencyn/a


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