A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2727859

Internal ID9962171
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:78716995..79557290hg38UCSC Ensembl
Outerchr4:79638149..80478444hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6777720, essv6736606, essv6722815, essv6881063, essv6686842, essv6707996, essv6840806, essv6903297, essv6860222, essv6833361, essv6825899, essv6924029, essv6821998, essv6704581, essv6734039, essv6914699, essv6854495, essv6774213, essv6700822, essv6751224, essv6947356, essv6869350, essv6973907, essv6910874, essv6762340, essv6848358, essv6711414, essv6697593, essv6794187, essv6956191, essv6860221, essv6926417, essv6679982, essv6865013, essv6808041, essv6670333, essv6683566, essv6848359, essv6906986, essv6781751, essv6791388, essv6730435, essv6690016, essv6934195, essv6802225, essv6899298, essv6715060, essv6962907, essv6829752, essv6886621, essv6919484, essv6968858, essv6899297, essv6956190, essv6956974, essv6865014, essv6813913, essv6872369, essv6739544, essv6951436, essv6813912, essv6675120, essv6767160, essv6896439, essv6785928, essv6883862, essv6785927, essv6844552, essv6822576, essv6802226, essv6852819, essv6707995, essv6686844, essv6726671, essv6764712, essv6878257, essv6837000
SamplesSSM010, SSM027, SSM013, SSM082, SSM086, SSM006, SSM036, SSM091, SSM033, SSM084, SSM099, SSM042, SSM040, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM071, SSM016, SSM057, SSM001, SSM024, SSM045, SSM067, SSM094, SSM083, SSM050, SSM041, SSM077, SSM062, SSM005, SSM093, SSM100, SSM085, SSM009, SSM066, SSM028, SSM029, SSM003, SSM095, SSM047, SSM073, SSM069, SSM021, SSM002, SSM034, SSM063, SSM087, SSM038, SSM046, SSM019, SSM096, SSM079, SSM052, SSM068, SSM004, SSM075, SSM015, SSM026, SSM014, SSM049, SSM081, SSM080
Known GenesBMP2K, GK2, LINC00989, LINC01088, NAA11, PAQR3
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2727859
Sample Size96
Observed Gain0
Observed Loss67
Observed Complex0

Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer