A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726904



Internal ID3277400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:3511914..3512054hg38UCSC Ensembl
Outerchr4:3513641..3513781hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6794066, essv6848184, essv6774112, essv6918178, essv6730322, essv6956000, essv6714963, essv6807959
SamplesSSM086, SSM043, SSM071, SSM017, SSM066, SSM047, SSM075, SSM026
Known GenesLRPAP1
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)esv2726904
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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