A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727770



Internal ID10311406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:68507889..68648431hg38UCSC Ensembl
Outerchr4:69373607..69514149hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38140543
hg19140543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6899285, essv6754132, essv6724909, essv6922612, essv6707980, essv6889743, essv6821984, essv6736593, essv6918256, essv6676032, essv6947344, essv6745550, essv6711400, essv6889745, essv6785910, essv6759651, essv6875323, essv6854473, essv6762330, essv6886608, essv6851486, essv6724898, essv6817561, essv6836983, essv6739524, essv6762332, essv6785911, essv6864995, essv6751217, essv6872356, essv6918151, essv6667291, essv6973881, essv6693680, essv6764699, essv6742746, essv6674998, essv6810915, essv6726657, essv6918262, essv6872357, essv6848328, essv6956773, essv6973882, essv6956784, essv6707979, essv6883849, essv6893056, essv6754133, essv6755932, essv6869336, essv6745548, essv6791277, essv6878244, essv6851375, essv6790025, essv6906966, essv6748373, essv6881051, essv6676033, essv6923896, essv6748374, essv6745549, essv6860202, essv6808030, essv6764698, essv6700732, essv6942802, essv6757059, essv6833352, essv6822476, essv6881052, essv6690006, essv6813901, essv6718924, essv6679963, essv6683548, essv6851242, essv6704560, essv6918040, essv6739523, essv6917929
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM024, SSM075, SSM046, SSM011, SSM079, SSM087, SSM097, SSM009, SSM093, SSM050, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM092, SSM090, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM089, SSM017, SSM094, SSM032, SSM003, SSM044, SSM001, SSM014, SSM086, SSM033, SSM006, SSM040, SSM082, SSM007, SSM078, SSM053, SSM005, SSM037, SSM077, SSM076, SSM010, SSM091, SSM055, SSM070, SSM095, SSM034, SSM004, SSM052, SSM098, SSM056, SSM030, SSM063
Known GenesUGT2B15, UGT2B17
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)esv2727770
Frequency
Sample Size96
Observed Gain0
Observed Loss62
Observed Complex0
Frequencyn/a


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