A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6928484



Internal ID9983278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:183734692..183737774hg38UCSC Ensembl
Outerchr4:184655845..184658927hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg383083
hg193083
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728877
Supporting Variants
SamplesSSM001
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)essv6928484
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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