A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10166343



Internal ID168159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:159952544..159964328hg38UCSC Ensembl
Innerchr1:159952694..159964178hg38UCSC Ensembl
Outerchr1:159952394..159964478hg38UCSC Ensembl
chr1:159922334..159934118hg19UCSC Ensembl
Innerchr1:159922484..159933968hg19UCSC Ensembl
Outerchr1:159922184..159934268hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg3811785
hg1911785
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587705
Supporting Variants
SamplesHG01121
Known GenesLINC01133, SLAMF9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10166343
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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