A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10200084



Internal ID1217905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179837274..179838676hg38UCSC Ensembl
Innerchr1:179837275..179838676hg38UCSC Ensembl
Outerchr1:179837274..179838677hg38UCSC Ensembl
chr1:179806409..179807811hg19UCSC Ensembl
Innerchr1:179806410..179807811hg19UCSC Ensembl
Outerchr1:179806409..179807812hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381403
hg191403
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588060
Supporting Variants
SamplesHG01082
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10200084
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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