A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6679978



Internal ID9749591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:73446450..73446918hg38UCSC Ensembl
Outerchr4:74312167..74312635hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38469
hg19469
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727825
Supporting Variants
SamplesSSM033
Known GenesAFP
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)essv6679978
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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