A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6821708



Internal ID9876334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:56558880..56559234hg38UCSC Ensembl
Outerchr3:56592908..56593262hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38355
hg19355
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725303
Supporting Variants
SamplesSSM079
Known GenesCCDC66
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)essv6821708
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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