A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6870031



Internal ID9661971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:17143697..17143966hg38UCSC Ensembl
Outerchr16:17237554..17237823hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714037, esv2714015, esv2714036
Supporting Variants
SamplesSSM011
Known GenesXYLT1
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)essv6870031
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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