A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588913



Internal ID6976329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:221144389..221158565hg38UCSC Ensembl
Innerchr1:221144433..221158522hg38UCSC Ensembl
Outerchr1:221144346..221158609hg38UCSC Ensembl
chr1:221317731..221331907hg19UCSC Ensembl
Innerchr1:221317775..221331864hg19UCSC Ensembl
Outerchr1:221317688..221331951hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3814177
hg1914177
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10299485
SamplesHG04209
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588913
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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