A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10326581



Internal ID3700482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233826369..233827811hg38UCSC Ensembl
Innerchr1:233826419..233827761hg38UCSC Ensembl
Outerchr1:233826157..233828023hg38UCSC Ensembl
chr1:233962115..233963557hg19UCSC Ensembl
Innerchr1:233962165..233963507hg19UCSC Ensembl
Outerchr1:233961903..233963769hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg381443
hg191443
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589155
Supporting Variants
SamplesHG03301
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10326581
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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