A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6842596



Internal ID9895133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:49318427..49318655hg38UCSC Ensembl
Outerchr13:49892563..49892791hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747391
Supporting Variants
SamplesSSM084
Known GenesCAB39L
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)essv6842596
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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