A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6864973



Internal ID10261959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:56635651..56635820hg38UCSC Ensembl
Outerchr4:57501817..57501986hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727639, esv2727641
Supporting Variants
SamplesSSM089
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)essv6864973
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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