A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9860530



Internal ID3546477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13985103..14044859hg38UCSC Ensembl
Innerchr1:13985253..14044709hg38UCSC Ensembl
Outerchr1:13984953..14045009hg38UCSC Ensembl
chr1:14311598..14371354hg19UCSC Ensembl
Innerchr1:14311748..14371204hg19UCSC Ensembl
Outerchr1:14311448..14371504hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3859757
hg1959757
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585270
Supporting Variants
SamplesHG03130
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9860530
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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