A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671500



Internal ID9590919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162162934..162165890hg38UCSC Ensembl
Outerchr6:162162513..162166260hg38UCSC Ensembl
Innerchr6:162583966..162586922hg19UCSC Ensembl
Outerchr6:162583545..162587292hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg383748
hg193748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1167e199
Supporting Variantsessv6182959, essv5500928, essv5555909, essv6283917, essv6237093, essv5429574, essv5403111, essv6426092, essv6013855, essv6302875, essv6537295, essv5791567, essv6530700, essv6407327, essv6324957, essv6106579, essv5547247, essv5692619, essv5589683, essv5897148, essv5777542, essv5825818, essv5742142, essv6062662, essv5585611, essv6315516, essv5424955, essv5506172, essv6557632, essv6295146, essv5744529, essv5764057, essv5462968, essv5427843, essv5560721, essv6432521, essv5509320, essv6069598, essv6098820, essv5560516, essv5649896, essv6326890, essv5870642, essv5841994, essv6559051, essv5628131, essv5683178, essv6341793, essv6396593, essv6337034, essv5674849, essv6253217, essv6011485, essv5879548, essv5787673, essv6427742, essv5700449, essv5700857, essv5476493, essv6443658, essv6058818, essv6195146, essv6570870, essv6339092, essv6156305, essv6412302, essv5693919, essv6509290, essv5812589, essv5653564, essv6422068, essv6554478, essv5578260, essv6497744, essv6559055, essv5774616, essv5807966, essv5584743, essv5753223, essv6412727, essv5892010, essv5955260, essv5826677
SamplesNA19394, NA19397, NA19466, NA18508, NA19399, NA19332, NA18486, NA19355, NA19393, NA19377, HG01461, NA19443, NA19190, NA18870, NA18510, NA19374, HG01250, NA19396, NA19381, NA19373, NA19171, NA19379, HG01366, NA19448, NA18923, HG01365, NA19384, NA19383, NA19372, NA19371, NA19207, NA19471, NA19317, HG01440, NA19189, NA19456, HG01124, HG01136, NA19247, HG01384, NA19403, NA18933, NA19391, NA19455, NA19236, NA18910, NA19453, NA18912, NA18853, NA19338, NA19318, NA19395, NA19440, NA19390, NA18909, NA19321, NA19147, NA19434, NA19473, HG01253, NA19435, NA19444, NA19439, NA19470, NA19428, NA19324, NA19398, NA19438, NA19223, NA19468, HG01254, NA19093, NA19102, NA19116, NA19213, NA19430, NA19129, NA19316, NA18511, NA18522, NA19429, HG01437, NA19431
Known GenesPARK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671500
Frequency
Sample Size1151
Observed Gain0
Observed Loss83
Observed Complex0
Frequencyn/a


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