A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747301



Internal ID9981585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:41219093..41219242hg38UCSC Ensembl
Outerchr13:41793229..41793378hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6949228, essv6851438
SamplesSSM024, SSM086
Known GenesMTRF1
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)esv2747301
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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