A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728401



Internal ID10312037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:137555848..137555927hg38UCSC Ensembl
Outerchr4:138477002..138477081hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6963016
SamplesSSM027
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)esv2728401
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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