A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588731



Internal ID6976147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211380301..211384367hg38UCSC Ensembl
Innerchr1:211380314..211384354hg38UCSC Ensembl
Outerchr1:211380288..211384380hg38UCSC Ensembl
chr1:211553643..211557709hg19UCSC Ensembl
Innerchr1:211553656..211557696hg19UCSC Ensembl
Outerchr1:211553630..211557722hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg384067
hg194067
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10285351
SamplesHG04206
Known GenesLINC00467
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588731
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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