A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749909



Internal ID9984193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:77716136..77720212hg38UCSC Ensembl
Outerchr15:78008478..78012554hg19UCSC Ensembl
Cytoband15q24.3
Allele length
AssemblyAllele length
hg384077
hg194077
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6942518, essv6749991, essv6772500, essv6758523, essv6877004, essv6897957, essv6835276, essv6806706, essv6867713, essv6842881, essv6792285, essv6775975, essv6905313, essv6738203, essv6974795, essv6928286, essv6681968, essv6888324, essv6747161, essv6717221, essv6690132, essv6685456, essv6920656, essv6673867, essv6949535, essv6713368, essv6768826, essv6869575, essv6871059, essv6900943, essv6932309, essv6688629, essv6668430, essv6873993, essv6824058, essv6953692, essv6728715, essv6862920, essv6678249, essv6812534
SamplesSSM100, SSM059, SSM008, SSM024, SSM046, SSM011, SSM064, SSM079, SSM065, SSM013, SSM050, SSM074, SSM042, SSM088, SSM092, SSM084, SSM090, SSM096, SSM089, SSM017, SSM019, SSM035, SSM032, SSM003, SSM031, SSM033, SSM082, SSM020, SSM005, SSM076, SSM091, SSM055, SSM070, SSM025, SSM034, SSM004, SSM099, SSM043, SSM056, SSM030
Known Genes
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)esv2749909
Frequency
Sample Size96
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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