A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3442563



Internal ID15289516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10661208..10663006hg38UCSC Ensembl
Innerchr1:10662006..10662208hg38UCSC Ensembl
Outerchr1:10660208..10664006hg38UCSC Ensembl
chr1:10721265..10723063hg19UCSC Ensembl
Innerchr1:10722063..10722265hg19UCSC Ensembl
Outerchr1:10720265..10724063hg19UCSC Ensembl
chr1:10643852..10645650hg18UCSC Ensembl
Innerchr1:10644852..10644650hg18UCSC Ensembl
Outerchr1:10642852..10646650hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv42e59
Supporting Variantsessv8691737
SamplesNA19238
Known GenesCASZ1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3442563
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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