A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3385957



Internal ID15232927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10661208..10662606hg38UCSC Ensembl
Innerchr1:10661606..10662208hg38UCSC Ensembl
Outerchr1:10660208..10663606hg38UCSC Ensembl
chr1:10721265..10722663hg19UCSC Ensembl
Innerchr1:10721663..10722265hg19UCSC Ensembl
Outerchr1:10720265..10723663hg19UCSC Ensembl
chr1:10643852..10645250hg18UCSC Ensembl
Innerchr1:10644852..10644250hg18UCSC Ensembl
Outerchr1:10642852..10646250hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv42e59
Supporting Variantsessv8691735
SamplesNA19240
Known GenesCASZ1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3385957
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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