A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738533



Internal ID9972873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:69162988..69163347hg38UCSC Ensembl
Outerchr9:71777904..71778263hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg38360
hg19360
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6970252, essv6912112, essv6908392, essv6799720, essv6830867, essv6861805, essv6923817, essv6838177, essv6958414, essv6866540, essv6705780, essv6698439, essv6919660, essv6716290, essv6783025, essv6870393, essv6815041, essv6827222, essv6803148, essv6948569, essv6927510, essv6856447, essv6692265, essv6939844, essv6701939, essv6881986, essv6791359, essv6695030, essv6841988, essv6935007, essv6819122, essv6727873, essv6850428, essv6795536, essv6900286, essv6681141, essv6672380, essv6724029, essv6890867, essv6787250, essv6897299, essv6677346, essv6709115, essv6944371, essv6712581, essv6976236, essv6687904, essv6873347, essv6731643, essv6811883
SamplesSSM100, SSM083, SSM071, SSM024, SSM045, SSM046, SSM087, SSM038, SSM097, SSM039, SSM073, SSM042, SSM088, SSM041, SSM023, SSM028, SSM084, SSM090, SSM047, SSM018, SSM069, SSM029, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM001, SSM014, SSM086, SSM033, SSM068, SSM081, SSM040, SSM072, SSM015, SSM078, SSM080, SSM037, SSM077, SSM076, SSM022, SSM091, SSM070, SSM099, SSM043
Known GenesTJP2
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)esv2738533
Frequency
Sample Size96
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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