A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10280509



Internal ID3790958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207842812..207847762hg38UCSC Ensembl
Innerchr1:207842828..207847746hg38UCSC Ensembl
Outerchr1:207842796..207847778hg38UCSC Ensembl
chr1:208016157..208021107hg19UCSC Ensembl
Innerchr1:208016173..208021091hg19UCSC Ensembl
Outerchr1:208016141..208021123hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg384951
hg194951
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588677
Supporting Variants
SamplesHG03439
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10280509
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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