A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10081939



Internal ID2214012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117784727..117792463hg38UCSC Ensembl
Innerchr1:117784727..117792463hg38UCSC Ensembl
Outerchr1:117784521..117792740hg38UCSC Ensembl
chr1:118327349..118335085hg19UCSC Ensembl
Innerchr1:118327349..118335085hg19UCSC Ensembl
Outerchr1:118327143..118335362hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg387737
hg197737
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587322
Supporting Variants
SamplesHG01990
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10081939
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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