A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588871



Internal ID6976287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:218545128..218548512hg38UCSC Ensembl
Innerchr1:218545130..218548510hg38UCSC Ensembl
Outerchr1:218545126..218548514hg38UCSC Ensembl
chr1:218718470..218721854hg19UCSC Ensembl
Innerchr1:218718472..218721852hg19UCSC Ensembl
Outerchr1:218718468..218721856hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg383385
hg193385
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10296915
SamplesHG00632
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588871
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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