A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6940480



Internal ID9701474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:25115346..25115481hg38UCSC Ensembl
Outerchr13:25689484..25689619hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747163, esv2747161, esv2747165
Supporting Variants
SamplesSSM022
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)essv6940480
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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