A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750208



Internal ID10331178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:570697..571406hg38UCSC Ensembl
Outerchr16:620697..621406hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38710
hg19710
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6971309, essv6949565, essv6940807, essv6953727, essv6706611, essv6846302, essv6913044, essv6696049
SamplesSSM024, SSM028, SSM085, SSM040, SSM015, SSM037, SSM022, SSM025
Known GenesPIGQ
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)esv2750208
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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