A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727859



Internal ID9962171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:78716995..79557290hg38UCSC Ensembl
Outerchr4:79638149..80478444hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg38840296
hg19840296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6686842, essv6722815, essv6700822, essv6821998, essv6899297, essv6751224, essv6686844, essv6886621, essv6704581, essv6736606, essv6919484, essv6968858, essv6837000, essv6764712, essv6906986, essv6813912, essv6973907, essv6794187, essv6683566, essv6670333, essv6869350, essv6956191, essv6785927, essv6767160, essv6924029, essv6962907, essv6848358, essv6903297, essv6844552, essv6675120, essv6848359, essv6951436, essv6697593, essv6739544, essv6707996, essv6910874, essv6854495, essv6899298, essv6833361, essv6865014, essv6730435, essv6860222, essv6947356, essv6829752, essv6808041, essv6926417, essv6774213, essv6860221, essv6956190, essv6777720, essv6825899, essv6711414, essv6781751, essv6883862, essv6726671, essv6934195, essv6802225, essv6679982, essv6956974, essv6878257, essv6813913, essv6734039, essv6840806, essv6802226, essv6690016, essv6914699, essv6822576, essv6872369, essv6791388, essv6785928, essv6762340, essv6881063, essv6715060, essv6896439, essv6865013, essv6852819, essv6707995
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM064, SSM079, SSM087, SSM038, SSM013, SSM009, SSM073, SSM093, SSM050, SSM042, SSM088, SSM002, SSM041, SSM057, SSM028, SSM084, SSM090, SSM021, SSM047, SSM069, SSM029, SSM096, SSM062, SSM026, SSM089, SSM019, SSM035, SSM094, SSM003, SSM031, SSM067, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM082, SSM015, SSM016, SSM005, SSM080, SSM077, SSM010, SSM091, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM049, SSM063
Known GenesBMP2K, GK2, LINC00989, LINC01088, NAA11, PAQR3
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)esv2727859
Frequency
Sample Size96
Observed Gain0
Observed Loss67
Observed Complex0
Frequencyn/a


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