A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640712



Internal ID7027486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48089253..48090064hg38UCSC Ensembl
Innerchr17:48089303..48090014hg38UCSC Ensembl
Outerchr17:48089203..48090114hg38UCSC Ensembl
chr17:46166615..46167426hg19UCSC Ensembl
Innerchr17:46166665..46167376hg19UCSC Ensembl
Outerchr17:46166565..46167476hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38812
hg19812
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15688179, essv15688178, essv15688180
SamplesHG01280, HG01256, HG01378
Known GenesCBX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640712
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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