A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6966265



Internal ID9724913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:60887693..61016326hg38UCSC Ensembl
Outerchr14:61354411..61483044hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38128634
hg19128634
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748755
Supporting Variants
SamplesSSM027
Known GenesMNAT1, SLC38A6, TRMT5
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)essv6966265
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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