A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6745317



Internal ID9809620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:14119020..14119919hg38UCSC Ensembl
Outerchr3:14160520..14161419hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38900
hg19900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724945, esv2724947
Supporting Variants
SamplesSSM055
Known GenesCHCHD4
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)essv6745317
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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