A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14079498



Internal ID3892494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:31399823..31403241hg38UCSC Ensembl
Innerchr11:31399842..31403222hg38UCSC Ensembl
Outerchr11:31399804..31403260hg38UCSC Ensembl
chr11:31421370..31424788hg19UCSC Ensembl
Innerchr11:31421389..31424769hg19UCSC Ensembl
Outerchr11:31421351..31424807hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg383419
hg193419
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625829
Supporting Variants
SamplesHG03547
Known GenesDNAJC24
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14079498
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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