A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6829573



Internal ID9883413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:134955082..134955700hg38UCSC Ensembl
Outerchr3:134673924..134674542hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg38619
hg19619
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725955
Supporting Variants
SamplesSSM081
Known GenesEPHB1
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)essv6829573
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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