A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586593



Internal ID6974111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:80492284..80501746hg38UCSC Ensembl
Innerchr1:80492784..80501246hg38UCSC Ensembl
Outerchr1:80491284..80502746hg38UCSC Ensembl
chr1:80957969..80967431hg19UCSC Ensembl
Innerchr1:80958469..80966931hg19UCSC Ensembl
Outerchr1:80956969..80968431hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg389463
hg199463
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9989181, essv9989182
SamplesHG02620, HG02642
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586593
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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