A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6968562



Internal ID9643292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:12518475..12520940hg38UCSC Ensembl
Outerchr10:12560474..12562939hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg382466
hg192466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733162
Supporting Variants
SamplesSSM004
Known GenesCAMK1D
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)essv6968562
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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