A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665140



Internal ID9584559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:46940520..46942426hg38UCSC Ensembl
Outerchr22:46940149..46942796hg38UCSC Ensembl
Innerchr22:47336416..47338322hg19UCSC Ensembl
Outerchr22:47336045..47338692hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg382648
hg192648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5856372, essv5722230, essv6541666, essv5793839, essv6516887, essv5692982, essv5651511, essv6527197, essv6452358, essv5778248, essv6123120, essv6541911, essv5810187, essv6559412, essv5404290, essv6219410, essv6324926, essv5587698, essv5927535, essv5738578, essv6420401, essv6088687, essv5827794, essv5408595, essv6038074, essv6527106, essv5807173, essv6053496, essv6461464, essv5499270, essv6505058, essv6358648, essv6159892, essv5815584, essv5729027, essv5999553, essv5551946, essv5622619, essv5679120, essv6051514, essv5889990, essv5553936, essv5520394, essv6579344, essv5413896, essv6572587, essv6278941, essv5616013, essv5904930, essv5840462, essv5654037, essv6295782, essv5487594, essv6064530, essv6418513, essv5579380, essv6097273, essv6502789, essv6148418, essv6216143, essv6428869, essv6045143, essv5843827, essv6076595, essv5530072, essv5757688, essv6343822
SamplesHG00650, HG00542, HG00442, HG00536, HG00608, HG00671, HG00524, HG00699, HG00449, HG00654, HG00693, HG00663, HG00589, HG00501, HG00702, HG00689, HG00448, HG00537, HG00590, HG00512, HG00683, HG00534, HG00422, HG00705, HG00427, HG00530, HG00419, HG00464, HG00543, HG00443, HG00596, HG00557, HG00428, HG00701, HG00657, HG00475, HG00436, HG00556, HG00584, HG00533, HG00583, HG00500, HG00619, HG00708, HG00692, HG00651, HG00690, HG00531, HG00479, HG00613, HG00704, HG00476, HG00580, HG00607, HG00662, HG00418, HG00620, HG00707, HG00672, HG00614, HG00478, HG00421, HG00656, HG00698, HG00437, HG00581, HG00593
Known GenesTBC1D22A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665140
Frequency
Sample Size1151
Observed Gain0
Observed Loss67
Observed Complex0
Frequencyn/a


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