A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6948865



Internal ID10055328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:133112857..133113022hg38UCSC Ensembl
Outerchr10:134926361..134926526hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743823
Supporting Variants
SamplesSSM024
Known GenesGPR123
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)essv6948865
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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