A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6817545



Internal ID10221574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:59519317..59519401hg38UCSC Ensembl
Outerchr4:60385035..60385119hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727670, esv2727666, esv2727667, esv2727674, esv2727671, esv2727672
Supporting Variants
SamplesSSM078
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)essv6817545
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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