A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14020752



Internal ID4022568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:8936425..8943806hg38UCSC Ensembl
Innerchr11:8936925..8943306hg38UCSC Ensembl
Outerchr11:8935425..8944806hg38UCSC Ensembl
chr11:8957972..8965353hg19UCSC Ensembl
Innerchr11:8958472..8964853hg19UCSC Ensembl
Outerchr11:8956972..8966353hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg387382
hg197382
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625324
Supporting Variants
SamplesNA18622
Known GenesASCL3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14020752
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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