A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6852089



Internal ID10250361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:57218720..57219033hg38UCSC Ensembl
Outerchr16:57252632..57252945hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714525
Supporting Variants
SamplesSSM086
Known GenesRSPRY1
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)essv6852089
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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