A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2728481

Internal ID9962795
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:143978248..144119589hg38UCSC Ensembl
Outerchr4:144899401..145040742hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2728481
Sample Size96
Observed Gain0
Observed Loss62
Observed Complex0

Hosted by The Centre for Applied Genomics
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