A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736704



Internal ID10320340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:19086324..19086712hg38UCSC Ensembl
Outerchr8:18943834..18944222hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38389
hg19389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6775123, essv6923644, essv6672049, essv6684518, essv6691029, essv6933619, essv6911939, essv6850128
SamplesSSM036, SSM018, SSM003, SSM031, SSM086, SSM066, SSM015, SSM034
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)esv2736704
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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