A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10274504



Internal ID276320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207041236..207043314hg38UCSC Ensembl
Innerchr1:207041288..207043262hg38UCSC Ensembl
Outerchr1:207041184..207043366hg38UCSC Ensembl
chr1:207214581..207216659hg19UCSC Ensembl
Innerchr1:207214633..207216607hg19UCSC Ensembl
Outerchr1:207214529..207216711hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg382079
hg192079
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588665
Supporting Variants
SamplesHG00288
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10274504
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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