A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6896776



Internal ID10012598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:93656679..93657400hg38UCSC Ensembl
Outerchr10:95416436..95417157hg19UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg38722
hg19722
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739651
Supporting Variants
SamplesSSM012
Known GenesPDE6C
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)essv6896776
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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