A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664200



Internal ID9583619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:74417299..74457105hg38UCSC Ensembl
Outerchr4:74416928..74457475hg38UCSC Ensembl
Innerchr4:75283016..75322822hg19UCSC Ensembl
Outerchr4:75282645..75323192hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3840548
hg1940548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5537063, essv5535858, essv6102062, essv5701471, essv6340184, essv5552217, essv6276023, essv5990929, essv6485343, essv6410712, essv5813484, essv6105507, essv5425837, essv5723018, essv6120397, essv5710138, essv6098260, essv6461457, essv6241853, essv5488412, essv6025744, essv5398983, essv6079660, essv6086829, essv5598587, essv5801415, essv6387535, essv6081753, essv6236999, essv6095600, essv5689879, essv5658391, essv6372465, essv6231245, essv5579454, essv5580839, essv6311802, essv6195568, essv5833203, essv5893917, essv5448730, essv6364027, essv5915670, essv6376256, essv6357311, essv6356856, essv6192716, essv6357103, essv5845413, essv5992325, essv6453642, essv5658552, essv6148780, essv5922309, essv6395173, essv5853991, essv6017055, essv6174974, essv5983979, essv5646788, essv5503004, essv6278693, essv5398316, essv6021474, essv6151731, essv6054902, essv5899739, essv6509340, essv6181401, essv5872300, essv5625602, essv6221879, essv5648856, essv6271402, essv5610650, essv5785298, essv6242502, essv6210137, essv5726202, essv5909675, essv5926283, essv6584557, essv5850165, essv6456845, essv6287888, essv5637527, essv5464648, essv5406599, essv6583585, essv5996183, essv6312334, essv5958283
SamplesHG00593, HG00626, HG00403, HG00650, HG00542, HG00442, HG00592, HG00536, HG00608, HG00671, HG00559, HG00524, HG00699, HG00566, HG00449, HG00654, HG00693, HG00663, HG00589, HG00501, HG00702, HG00689, HG00448, HG00634, HG00610, HG00537, HG00590, HG00512, HG00683, HG00534, HG00422, HG00705, HG00427, HG00530, HG00419, HG00464, HG00543, HG00560, HG00629, HG00443, HG00596, HG00557, HG00428, HG00653, HG00577, HG00701, HG00657, HG00475, HG00436, HG00556, HG00584, HG00533, HG00583, HG00500, HG00619, HG00708, HG00692, HG00635, HG00651, HG00690, HG00404, HG00531, HG00479, HG00684, HG00613, HG00525, HG00704, HG00463, HG00611, HG00476, HG00625, HG00565, HG00580, HG00473, HG00607, HG00662, HG00418, HG00620, HG00707, HG00672, HG00614, HG00513, HG00578, HG00478, HG00421, HG00656, HG00698, HG00595, HG00472, HG00628, HG00437, HG00581
Known GenesAREG
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664200
Frequency
Sample Size1151
Observed Gain0
Observed Loss92
Observed Complex0
Frequencyn/a


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