A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6688038



Internal ID9755233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:46409096..46410481hg38UCSC Ensembl
Outerchr10:47139270..47140655hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg381386
hg191386
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736163, esv2736240, esv2736152
Supporting Variants
SamplesSSM035
Known GenesLINC00842
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)essv6688038
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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