A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12094740



Internal ID388280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149919158..149924176hg38UCSC Ensembl
Innerchr5:149919308..149924026hg38UCSC Ensembl
Outerchr5:149919008..149924326hg38UCSC Ensembl
chr5:149298721..149303739hg19UCSC Ensembl
Innerchr5:149298871..149303589hg19UCSC Ensembl
Outerchr5:149298571..149303889hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg385019
hg195019
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607154
Supporting Variants
SamplesHG00113
Known GenesPDE6A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12094740
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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