A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733595



Internal ID10317231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:16722563..16723220hg38UCSC Ensembl
Outerchr10:16764562..16765219hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38658
hg19658
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6731777, essv6737645, essv6685065
SamplesSSM050, SSM047, SSM005
Known GenesRSU1
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)esv2733595
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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