A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714803



Internal ID9949088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:83162195..83175095hg38UCSC Ensembl
Outerchr16:83195800..83208700hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3812901
hg1912901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6713524
SamplesSSM042
Known GenesCDH13
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)esv2714803
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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