A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14034253



Internal ID4036069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:14804639..14825493hg38UCSC Ensembl
Innerchr11:14804639..14825493hg38UCSC Ensembl
Outerchr11:14804139..14825993hg38UCSC Ensembl
chr11:14826185..14847039hg19UCSC Ensembl
Innerchr11:14826185..14847039hg19UCSC Ensembl
Outerchr11:14825685..14847539hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg3820855
hg1920855
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625428
Supporting Variants
SamplesHG01859
Known GenesPDE3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14034253
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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