A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14034246



Internal ID4036062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:14740970..14742147hg38UCSC Ensembl
Innerchr11:14740971..14742147hg38UCSC Ensembl
Outerchr11:14740970..14742148hg38UCSC Ensembl
chr11:14762516..14763693hg19UCSC Ensembl
Innerchr11:14762517..14763693hg19UCSC Ensembl
Outerchr11:14762516..14763694hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg381178
hg191178
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625427
Supporting Variants
SamplesHG03451
Known GenesPDE3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14034246
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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