A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10081546



Internal ID3101651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117282187..117285450hg38UCSC Ensembl
Innerchr1:117282187..117285450hg38UCSC Ensembl
Outerchr1:117281987..117285785hg38UCSC Ensembl
chr1:117824809..117828072hg19UCSC Ensembl
Innerchr1:117824809..117828072hg19UCSC Ensembl
Outerchr1:117824609..117828407hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg383264
hg193264
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587311
Supporting Variants
SamplesHG02725
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10081546
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer