A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6785773



Internal ID9843992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:999769..1000025hg38UCSC Ensembl
Outerchr4:993557..993813hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726742, esv2726744
Supporting Variants
SamplesSSM069
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)essv6785773
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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