A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727942



Internal ID10311578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:87542655..87542841hg38UCSC Ensembl
Outerchr4:88463807..88463993hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6676063, essv6785939, essv6690024
SamplesSSM036, SSM069, SSM032
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)esv2727942
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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