A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6839202



Internal ID10238952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46418866..46418977hg38UCSC Ensembl
Outerchr16:46452778..46452889hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714419, esv2714399, esv2714405, esv2714402, esv2714391, esv2714426, esv2714384, esv2714397, esv2714412, esv2714408
Supporting Variants
SamplesSSM083
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)essv6839202
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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