A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9989181



Internal ID2964536
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586593
Supporting Variants
SamplesHG02620
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9989181
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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