A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14034237



Internal ID4036053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:14690430..14692669hg38UCSC Ensembl
Innerchr11:14690447..14692652hg38UCSC Ensembl
Outerchr11:14690413..14692686hg38UCSC Ensembl
chr11:14711976..14714215hg19UCSC Ensembl
Innerchr11:14711993..14714198hg19UCSC Ensembl
Outerchr11:14711959..14714232hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg382240
hg192240
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625426
Supporting Variants
SamplesHG03058
Known GenesPDE3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14034237
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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