A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733184



Internal ID9967506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:12597932..12605636hg38UCSC Ensembl
Outerchr10:12639931..12647635hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg387705
hg197705
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6746570
SamplesSSM055
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)esv2733184
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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