A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716038



Internal ID9950325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:50654898..50655409hg38UCSC Ensembl
Outerchr17:48732259..48732770hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38512
hg19512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6665857, essv6766168, essv6738374
SamplesSSM050, SSM029, SSM063
Known GenesABCC3
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)esv2716038
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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