A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6678522



Internal ID10093263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:49151093..49151447hg38UCSC Ensembl
Outerchr17:47228455..47228809hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38355
hg19355
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716020
Supporting Variants
SamplesSSM032
Known GenesB4GALNT2
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)essv6678522
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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