A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6779937



Internal ID9838737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:17143624..17144008hg38UCSC Ensembl
Outerchr16:17237481..17237865hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38385
hg19385
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714037, esv2714015, esv2714036
Supporting Variants
SamplesSSM067
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)essv6779937
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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