A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3339854



Internal ID14840124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226977728..226979026hg38UCSC Ensembl
Innerchr1:226978026..226978728hg38UCSC Ensembl
Outerchr1:226976728..226980026hg38UCSC Ensembl
chr1:227165429..227166727hg19UCSC Ensembl
Innerchr1:227165727..227166429hg19UCSC Ensembl
Outerchr1:227164429..227167727hg19UCSC Ensembl
chr1:225232052..225233350hg18UCSC Ensembl
Innerchr1:225233052..225232350hg18UCSC Ensembl
Outerchr1:225231052..225234350hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692134
SamplesNA19239
Known GenesADCK3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3339854
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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