A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3435601



Internal ID15282555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:5665705..5676603hg38UCSC Ensembl
Innerchr1:5666705..5675603hg38UCSC Ensembl
Outerchr1:5664705..5677603hg38UCSC Ensembl
chr1:5725765..5736663hg19UCSC Ensembl
Innerchr1:5726765..5735663hg19UCSC Ensembl
Outerchr1:5724765..5737663hg19UCSC Ensembl
chr1:5648352..5659250hg18UCSC Ensembl
Innerchr1:5649352..5658250hg18UCSC Ensembl
Outerchr1:5647352..5660250hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3810899
hg1910899
hg1810899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv30e59
Supporting Variantsessv8692383
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3435601
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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