A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728481



Internal ID9962795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:143978248..144119589hg38UCSC Ensembl
Outerchr4:144899401..145040742hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38141342
hg19141342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6770406, essv6730499, essv6840862, essv6926465, essv6854616, essv6907091, essv6899363, essv6907092, essv6805115, essv6805116, essv6817703, essv6686912, essv6757124, essv6951498, essv6968927, essv6910924, essv6963029, essv6817702, essv6942901, essv6693758, essv6748437, essv6833420, essv6774261, essv6686913, essv6810998, essv6907090, essv6829808, essv6811000, essv6951500, essv6957440, essv6844612, essv6726756, essv6934265, essv6739616, essv6745628, essv6963030, essv6869408, essv6925151, essv6700605, essv6751285, essv6938591, essv6822073, essv6974036, essv6829807, essv6903369, essv6745623, essv6742814, essv6872432, essv6865117, essv6726755, essv6725543, essv6860332, essv6722879, essv6754201, essv6680039, essv6748440, essv6840861, essv6725532, essv6762386, essv6924630, essv6907089, essv6893127, essv6924641, essv6858042, essv6884631, essv6759719, essv6751284, essv6903370, essv6715115, essv6777781, essv6726757, essv6974037, essv6893126, essv6947415, essv6725554, essv6922684, essv6956322, essv6884642, essv6918343, essv6899362, essv6925262, essv6701210, essv6701199, essv6951499, essv6865118, essv6878319, essv6922683, essv6918344, essv6942902, essv6844608, essv6889838, essv6745622, essv6785993, essv6756787, essv6697644, essv6756809
SamplesSSM065, SSM022, SSM007, SSM027, SSM013, SSM053, SSM082, SSM006, SSM055, SSM091, SSM033, SSM084, SSM061, SSM078, SSM043, SSM088, SSM089, SSM090, SSM035, SSM025, SSM057, SSM001, SSM039, SSM024, SSM045, SSM067, SSM097, SSM062, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM066, SSM028, SSM029, SSM003, SSM047, SSM069, SSM021, SSM002, SSM037, SSM087, SSM038, SSM046, SSM019, SSM023, SSM079, SSM052, SSM074, SSM004, SSM015, SSM026, SSM014, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM081
Known GenesGYPA, GYPB
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2728481
Frequency
Sample Size96
Observed Gain0
Observed Loss62
Observed Complex0
Frequencyn/a


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