A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14088547



Internal ID2404539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:33969950..33973132hg38UCSC Ensembl
Innerchr11:33970018..33973065hg38UCSC Ensembl
Outerchr11:33969883..33973200hg38UCSC Ensembl
chr11:33991497..33994679hg19UCSC Ensembl
Innerchr11:33991565..33994612hg19UCSC Ensembl
Outerchr11:33991430..33994747hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg383183
hg193183
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625900
Supporting Variants
SamplesHG02131
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14088547
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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