A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750365



Internal ID10331335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1738369..1738586hg38UCSC Ensembl
Outerchr16:1788370..1788587hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38218
hg19218
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6673930, essv6839086
SamplesSSM083, SSM031
Known GenesMAPK8IP3
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)esv2750365
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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