A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673015



Internal ID9939120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:122861143..122861630hg38UCSC Ensembl
Outerchr4:122861104..122861687hg38UCSC Ensembl
Innerchr4:123782298..123782785hg19UCSC Ensembl
Outerchr4:123782259..123782842hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38584
hg19584
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6356339, essv5590094, essv5404014, essv5971433, essv5914865, essv6533924, essv5570465, essv5960338, essv5950626, essv6041426, essv6433419, essv5937013, essv5736565, essv5602328, essv6077718, essv6254297, essv5980512, essv6275819, essv6015989, essv6256146, essv6543238, essv6278979, essv6100568, essv6356931, essv6063301, essv5586942, essv5557630, essv5839199, essv6344391, essv6174140, essv5736220, essv6523138, essv6083249, essv6436219, essv6238482, essv5861869, essv6327185, essv6299906, essv5524682, essv6352316, essv5890787, essv5446771, essv6439465, essv6197797, essv5659555, essv5951898, essv5973212, essv5523462, essv5839545, essv5755038, essv5972573, essv6561957, essv6583622, essv6110031, essv5882247, essv6237185, essv5765069, essv5434854, essv5559050, essv5948903, essv6259243, essv6217706, essv6314276, essv6516308, essv6215634, essv5438435, essv6396759, essv6478590, essv6009958, essv5897684, essv5577125, essv6150032, essv5705693, essv5655770, essv6094259, essv6535733, essv6363586, essv6563485, essv5850171, essv5433685, essv6028193, essv5932724, essv5494856, essv5575303, essv5997160, essv6309544, essv5975813, essv5416629, essv6535308, essv5837090, essv5411434, essv6147000, essv5566315, essv6157278, essv6161894, essv5476355, essv5800160, essv6146865, essv5754193, essv6593500, essv6205669
SamplesHG00442, NA11829, HG01359, HG00524, HG01079, NA18599, NA18999, NA19092, NA18545, HG01456, NA18959, NA20808, NA20771, HG01522, NA18988, NA18627, NA19068, NA19660, NA19076, NA18550, NA18597, HG01488, NA18635, HG01492, NA19062, NA19720, HG01080, HG01067, HG00120, NA20819, NA20812, NA19719, NA19372, NA19002, HG01048, NA12828, HG00178, NA18973, HG00419, NA18638, NA19007, NA10847, HG00133, HG00149, HG00560, NA19070, NA12342, HG00653, NA20521, HG00657, NA20314, HG00533, HG00500, NA19788, NA18948, NA19776, NA12234, HG00708, NA18537, HG01073, NA18626, HG01101, HG00613, HG00525, NA12827, NA20765, NA18953, NA19729, HG00336, NA18952, NA18543, HG00278, NA19010, NA20527, HG00308, NA20778, HG00607, HG00237, HG00319, HG01108, NA19783, HG00418, NA20582, NA19060, NA19716, HG01055, NA18636, NA20289, NA11843, NA18983, NA19755, NA19004, HG01111, NA19758, NA12154, NA19074, HG00437, NA18562, NA12776, NA18965, NA20772
Known GenesFGF2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673015
Frequency
Sample Size1151
Observed Gain0
Observed Loss101
Observed Complex0
Frequencyn/a


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