A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733373



Internal ID9967696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:13319326..13322833hg38UCSC Ensembl
Outerchr10:13361326..13364833hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg383508
hg193508
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6968573, essv6806127
SamplesSSM074, SSM004
Known GenesSEPHS1
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)esv2733373
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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