A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6708954



Internal ID9648402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:7748378..7752605hg38UCSC Ensembl
Outerchr10:7790341..7794568hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg384228
hg194228
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732384
Supporting Variants
SamplesSSM006
Known GenesITIH2, KIN
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)essv6708954
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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