A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5916758



Internal ID9315675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149881851..149882855hg38UCSC Ensembl
chr5:149261414..149262418hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381005
hg191005
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2663162
Supporting Variants
SamplesNA18505
Known GenesPDE6A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5916758
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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