A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6867540



Internal ID9917581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:88423679..88423815hg38UCSC Ensembl
Outerchr14:88890023..88890159hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748992, esv2748993
Supporting Variants
SamplesSSM089
Known GenesSPATA7
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)essv6867540
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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