A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716681



Internal ID9950969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:2876478..2876692hg38UCSC Ensembl
Outerchr18:2876476..2876690hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38215
hg19215
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6692232, essv6801047, essv6721434, essv6678581, essv6685685
SamplesSSM032, SSM044, SSM072, SSM005, SSM034
Known GenesEMILIN2
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)esv2716681
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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