A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6940827



Internal ID9701951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:10764781..10764981hg38UCSC Ensembl
Outerchr16:10858638..10858838hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38201
hg19201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2713970, esv2713968, esv2713972, esv2713967
Supporting Variants
SamplesSSM022
Known GenesNUBP1
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)essv6940827
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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