A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737078



Internal ID10320714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:61122774..61123363hg38UCSC Ensembl
Outerchr8:62035333..62035922hg19UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg38590
hg19590
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6952591, essv6850184, essv6800933, essv6667911, essv6845474, essv6757842, essv6958154, essv6876212, essv6818956, essv6884683, essv6964756, essv6919534, essv6904342, essv6893632, essv6746385, essv6768036, essv6687807, essv6775157, essv6723896, essv6834364, essv6803049, essv6830609, essv6755053, essv6897202, essv6911978, essv6904730, essv6731508, essv6683332, essv6749228
SamplesSSM059, SSM027, SSM045, SSM064, SSM013, SSM009, SSM073, SSM002, SSM058, SSM092, SSM047, SSM026, SSM017, SSM035, SSM086, SSM066, SSM085, SSM082, SSM015, SSM078, SSM005, SSM010, SSM055, SSM095, SSM025, SSM099, SSM056, SSM030, SSM012
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)esv2737078
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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