A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727355



Internal ID10310991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:31705868..31706453hg38UCSC Ensembl
Outerchr4:31707490..31708075hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38586
hg19586
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6667267, essv6956080, essv6962798
SamplesSSM027, SSM026, SSM030
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)esv2727355
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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