A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10032534



Internal ID6187547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100749589..100752506hg38UCSC Ensembl
Innerchr1:100749589..100752506hg38UCSC Ensembl
Outerchr1:100749404..100752743hg38UCSC Ensembl
chr1:101215145..101218062hg19UCSC Ensembl
Innerchr1:101215145..101218062hg19UCSC Ensembl
Outerchr1:101214960..101218299hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg382918
hg192918
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586951
Supporting Variants
SamplesNA19720
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10032534
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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