A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6973809



Internal ID10077728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:41442979..41443622hg38UCSC Ensembl
Outerchr4:41444996..41445639hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38644
hg19644
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727486, esv2727484
Supporting Variants
SamplesSSM029
Known GenesLIMCH1
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)essv6973809
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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