A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692250



Internal ID13736858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:25508774..25509072hg38UCSC Ensembl
Innerchr1:25508773..25509073hg38UCSC Ensembl
Outerchr1:25507774..25510072hg38UCSC Ensembl
chr1:25835265..25835563hg19UCSC Ensembl
Innerchr1:25835264..25835564hg19UCSC Ensembl
Outerchr1:25834265..25836563hg19UCSC Ensembl
chr1:25707852..25708150hg18UCSC Ensembl
Innerchr1:25708151..25707851hg18UCSC Ensembl
Outerchr1:25706852..25709150hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38299
hg19299
hg18299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3413689
Supporting Variants
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692250
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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