A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6753620



Internal ID10001893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:45789269..45789806hg38UCSC Ensembl
Outerchr3:45830761..45831298hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38538
hg19538
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725225
Supporting Variants
SamplesSSM008
Known GenesSLC6A20
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)essv6753620
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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