A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6730302



Internal ID9794067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:999760..1000052hg38UCSC Ensembl
Outerchr4:993548..993840hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726742, esv2726744
Supporting Variants
SamplesSSM047
Known GenesIDUA
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)essv6730302
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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