A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6804027



Internal ID10205454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82663687..82664280hg38UCSC Ensembl
Outerchr17:80621563..80622156hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38594
hg19594
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716514
Supporting Variants
SamplesSSM073
Known GenesRAB40B
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)essv6804027
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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