A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6751060



Internal ID10159966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:123959529..123960018hg38UCSC Ensembl
Outerchr3:123678376..123678865hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38490
hg19490
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725842
Supporting Variants
SamplesSSM057
Known GenesCCDC14
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)essv6751060
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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