A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733539



Internal ID9967863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:15229607..15229867hg38UCSC Ensembl
Outerchr10:15271606..15271866hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6965223, essv6870479, essv6866716, essv6724172, essv6856663, essv6819278
SamplesSSM027, SSM078, SSM089, SSM090, SSM045, SSM087
Known GenesFAM171A1
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)esv2733539
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