A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6857451



Internal ID9908505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:49318536..49318634hg38UCSC Ensembl
Outerchr13:49892672..49892770hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747392, esv2747391
Supporting Variants
SamplesSSM087
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)essv6857451
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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