A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6820675



Internal ID10007145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:56573680..56587608hg38UCSC Ensembl
Outerchr3:56607708..56621636hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3813929
hg1913929
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725306
Supporting Variants
SamplesSSM010
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)essv6820675
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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