A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14075143



Internal ID6508459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:28985596..28991219hg38UCSC Ensembl
Innerchr11:28985596..28991219hg38UCSC Ensembl
Outerchr11:28985293..28991606hg38UCSC Ensembl
chr11:29007143..29012766hg19UCSC Ensembl
Innerchr11:29007143..29012766hg19UCSC Ensembl
Outerchr11:29006840..29013153hg19UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg385624
hg195624
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625787
Supporting Variants
SamplesNA20536
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14075143
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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