A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730901



Internal ID9965218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:149006282..149006384hg38UCSC Ensembl
Outerchr5:148385845..148385947hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6907369, essv6670905, essv6865404
SamplesSSM089, SSM031, SSM014
Known GenesSH3TC2
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)esv2730901
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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