A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6854598



Internal ID9986588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:102463686..102464565hg38UCSC Ensembl
Outerchr4:103384843..103385722hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg38880
hg19880
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728071, esv2728072
Supporting Variants
SamplesSSM002
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)essv6854598
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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