A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589006



Internal ID6976422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226009239..226014194hg38UCSC Ensembl
Innerchr1:226009239..226014194hg38UCSC Ensembl
Outerchr1:226009100..226014322hg38UCSC Ensembl
chr1:226196940..226201895hg19UCSC Ensembl
Innerchr1:226196940..226201895hg19UCSC Ensembl
Outerchr1:226196801..226202023hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg384956
hg194956
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10309215, essv10309202, essv10309199, essv10309213, essv10309205, essv10309204, essv10309198, essv10309210, essv10309209, essv10309212, essv10309208, essv10309203, essv10309196, essv10309211, essv10309197, essv10309200, essv10309206, essv10309207, essv10309201, essv10309214
SamplesHG01802, HG02040, NA18988, NA18944, HG00589, HG00458, HG01599, NA18949, NA18986, HG01847, NA19064, NA19000, HG01870, NA18541, NA18941, HG00672, HG00656, NA18972, NA18984, NA18622
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589006
Frequency
Sample Size2504
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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