A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656681



Internal ID9922786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44969848..44970991hg38UCSC Ensembl
chr19:45473105..45474248hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381144
hg191144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6033876, essv5549431, essv6242620, essv6107347, essv5994846, essv5984587, essv5659094, essv5563863, essv5928353, essv6007467, essv6491030, essv6597234, essv6458965, essv5583251, essv5413063, essv6001797, essv5484708, essv5721640, essv5878216, essv5696873, essv5737522, essv6375095, essv5882389, essv5885456, essv6031961, essv5751898, essv6012316, essv5935883, essv5761783, essv6138206, essv5623928, essv5886956, essv6280325, essv6432300, essv6004620, essv5513145, essv6494694, essv6101417, essv5525383, essv6128599, essv6493479, essv5941693, essv5807479, essv6284115, essv6018132, essv5741851, essv6062172, essv5473553, essv5796629, essv5614124, essv6201860, essv6525244, essv5821675, essv6573222, essv5663071, essv5632105, essv6574321, essv6169268, essv6373737, essv5708612, essv5888877, essv5719590, essv6304978, essv6272689, essv5605957, essv6074435, essv5818670, essv6074502, essv5450661, essv5874923, essv5621952, essv6141366, essv5544230, essv6394814, essv6119127, essv5426533, essv6442903, essv6256186
SamplesNA19394, NA19701, NA19703, NA19397, HG01462, NA19466, NA19399, HG01188, HG00306, NA19355, NA19393, NA19443, NA19920, NA19107, NA19396, NA19660, NA19381, NA19379, NA20589, HG01492, HG00736, NA20768, NA19138, NA20336, NA19904, HG00311, HG00512, NA20759, HG00236, NA18868, NA19471, NA19002, NA19901, NA19189, NA19445, NA20127, HG01183, NA19247, NA19657, HG01187, NA19707, HG00596, NA19403, HG00190, NA18871, HG00284, NA19655, HG00525, HG00321, NA19452, NA19469, NA19395, NA20534, NA18541, NA18576, NA19434, HG00375, HG00734, HG01174, NA20778, NA19324, NA19360, NA12347, NA19376, HG00513, NA19248, HG00312, NA19472, NA19713, NA19474, HG01055, NA18873, HG00280, HG00377, NA18549, NA19429, NA18487, NA19431
Known GenesCLPTM1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656681
Frequency
Sample Size1151
Observed Gain0
Observed Loss78
Observed Complex0
Frequencyn/a


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