A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6823935



Internal ID10225023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:77220943..77221329hg38UCSC Ensembl
Outerchr14:77687286..77687672hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38387
hg19387
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748895
Supporting Variants
SamplesSSM079
Known GenesTMEM63C
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)essv6823935
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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