A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3625427



Internal ID6665574
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14034243, essv14034244, essv14034252, essv14034242, essv14034248, essv14034238, essv14034240, essv14034249, essv14034246, essv14034239, essv14034247, essv14034251, essv14034245, essv14034241, essv14034250
SamplesHG01985, HG02339, NA19399, HG03485, HG01365, HG03212, HG03225, HG03073, HG02879, HG03451, HG03469, NA19467, NA19475, HG02646, NA19316
Known GenesPDE3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3625427
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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