A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10309208



Internal ID5401612
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589006
Supporting Variants
SamplesNA18944
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10309208
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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