A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6977801



Internal ID9733762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:88607974..88608143hg38UCSC Ensembl
Outerchr14:89074318..89074487hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748994, esv2748997, esv2748995
Supporting Variants
SamplesSSM029
Known GenesZC3H14
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)essv6977801
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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