A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10333060



Internal ID3905602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235709433..235709954hg38UCSC Ensembl
Innerchr1:235709433..235709954hg38UCSC Ensembl
Outerchr1:235708825..235710332hg38UCSC Ensembl
chr1:235872733..235873254hg19UCSC Ensembl
Innerchr1:235872733..235873254hg19UCSC Ensembl
Outerchr1:235872125..235873632hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38522
hg19522
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589199
Supporting Variants
SamplesHG03559
Known GenesLYST
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10333060
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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