A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12094722



Internal ID1557519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149881855..149882895hg38UCSC Ensembl
Innerchr5:149881863..149882888hg38UCSC Ensembl
Outerchr5:149881848..149882903hg38UCSC Ensembl
chr5:149261418..149262458hg19UCSC Ensembl
Innerchr5:149261426..149262451hg19UCSC Ensembl
Outerchr5:149261411..149262466hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381041
hg191041
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607153
Supporting Variants
SamplesHG01440
Known GenesPDE6A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12094722
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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