A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6683256



Internal ID9754199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:3800542..3800675hg38UCSC Ensembl
Outerchr3:3842226..3842359hg19UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724816, esv2724818
Supporting Variants
SamplesSSM034
Known GenesLRRN1
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)essv6683256
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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