A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6938194



Internal ID9700435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:14436470..14436652hg38UCSC Ensembl
Outerchr3:14477978..14478160hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724957, esv2724945, esv2724958
Supporting Variants
SamplesSSM022
Known GenesSLC6A6
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)essv6938194
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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