A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748950



Internal ID10329920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:83112204..83112746hg38UCSC Ensembl
Outerchr14:83578548..83579090hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38543
hg19543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6901611, essv6941462, essv6741347
SamplesSSM003, SSM052, SSM012
Known Genes
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)esv2748950
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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