A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750335



Internal ID10331305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1396973..1397430hg38UCSC Ensembl
Outerchr16:1446974..1447431hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38458
hg19458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv322e201
Supporting Variantsessv6835312, essv6953746, essv6971324, essv6966554
SamplesSSM027, SSM028, SSM082, SSM025
Known GenesUNKL
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)esv2750335
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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