A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750372



Internal ID10331342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1920016..1920445hg38UCSC Ensembl
Outerchr16:1970017..1970446hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38430
hg19430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6678289, essv6945481, essv6685486, essv6888355, essv6835315, essv6776137, essv6800715, essv6851956
SamplesSSM023, SSM096, SSM032, SSM086, SSM066, SSM072, SSM082, SSM034
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)esv2750372
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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