A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6670553



Internal ID10086999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:182971037..182971141hg38UCSC Ensembl
Outerchr4:183892190..183892294hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728853, esv2728854
Supporting Variants
SamplesSSM031
Known Genes
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)essv6670553
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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