A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730478



Internal ID9964794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:95230036..95230409hg38UCSC Ensembl
Outerchr5:94565740..94566113hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38374
hg19374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6969165, essv6693955
SamplesSSM028, SSM037
Known GenesMCTP1
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)esv2730478
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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