A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10233355



Internal ID4930635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:191042177..191119220hg38UCSC Ensembl
Innerchr1:191042189..191119208hg38UCSC Ensembl
Outerchr1:191042165..191119232hg38UCSC Ensembl
chr1:191011307..191088350hg19UCSC Ensembl
Innerchr1:191011319..191088338hg19UCSC Ensembl
Outerchr1:191011295..191088362hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3877044
hg1977044
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588315
Supporting Variants
SamplesNA12775
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10233355
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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