A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692134



Internal ID14719514
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 StatusS
Merged Variantsesv3339854
Supporting Variants
SamplesNA19239
Known GenesADCK3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692134
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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