A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716717



Internal ID10300353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:5492088..5492669hg38UCSC Ensembl
Outerchr18:5492087..5492668hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38582
hg19582
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6954068, essv6758722, essv6901178, essv6941177, essv6913240, essv6741695
SamplesSSM100, SSM059, SSM002, SSM022, SSM025, SSM052
Known GenesEPB41L3
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)esv2716717
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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