A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717145



Internal ID10300781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:57278112..57278541hg38UCSC Ensembl
Outerchr18:54945343..54945772hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38430
hg19430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6925135, essv6696435, essv6692282, essv6932753, essv6792714, essv6796883, essv6703313
SamplesSSM036, SSM071, SSM039, SSM018, SSM020, SSM037, SSM070
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)esv2717145
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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