A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640907



Internal ID7027681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:59651793..59652600hg38UCSC Ensembl
Innerchr17:59651798..59652595hg38UCSC Ensembl
Outerchr17:59651788..59652605hg38UCSC Ensembl
chr17:57729154..57729961hg19UCSC Ensembl
Innerchr17:57729159..57729956hg19UCSC Ensembl
Outerchr17:57729149..57729966hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg38808
hg19808
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15711835, essv15711836, essv15711834
SamplesNA18988, HG02130, NA18533
Known GenesCLTC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640907
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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