A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717366



Internal ID10301002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:75104734..75105030hg38UCSC Ensembl
Outerchr18:72816690..72816986hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38297
hg19297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv464e201
Supporting Variantsessv6685758, essv6725322, essv6945915, essv6678664
SamplesSSM045, SSM023, SSM032, SSM034
Known Genes
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)esv2717366
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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