A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747195



Internal ID10328165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:29148445..29148913hg38UCSC Ensembl
Outerchr13:29722582..29723050hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38469
hg19469
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6928037, essv6857418, essv6752658, essv6730597, essv6846049, essv6765848
SamplesSSM087, SSM057, SSM019, SSM001, SSM085, SSM063
Known GenesMTUS2
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)esv2747195
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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