A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10273979



Internal ID275795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206017604..206080918hg38UCSC Ensembl
Innerchr1:206017617..206080904hg38UCSC Ensembl
Outerchr1:206017590..206080931hg38UCSC Ensembl
chr1:206260414..206323764hg19UCSC Ensembl
Innerchr1:206260428..206323751hg19UCSC Ensembl
Outerchr1:206260401..206323778hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3863315
hg1963351
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588649
Supporting Variants
SamplesHG02401
Known GenesC1orf186, CTSE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10273979
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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