A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9961260



Internal ID1174744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:68608149..68609368hg38UCSC Ensembl
Innerchr1:68608149..68609368hg38UCSC Ensembl
Outerchr1:68607984..68609549hg38UCSC Ensembl
chr1:69073832..69075051hg19UCSC Ensembl
Innerchr1:69073832..69075051hg19UCSC Ensembl
Outerchr1:69073667..69075232hg19UCSC Ensembl
Cytoband1p31.2
Allele length
AssemblyAllele length
hg381220
hg191220
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586324
Supporting Variants
SamplesHG01054
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9961260
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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