A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730317



Internal ID9964633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1592412..1592680hg38UCSC Ensembl
Outerchr10:1634607..1634875hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv80e201
Supporting Variantsessv6830960, essv6887716, essv6724141, essv6799840, essv6702051, essv6897367
SamplesSSM045, SSM039, SSM096, SSM081, SSM072, SSM099
Known GenesADARB2
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)esv2730317
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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