A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6796177



Internal ID9853081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:49377246..49379702hg38UCSC Ensembl
Outerchr13:49951382..49953838hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382457
hg192457
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747393
Supporting Variants
SamplesSSM071
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)essv6796177
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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