A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663162



Internal ID9929267
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6522750, essv6521242, essv5721304, essv5478803, essv5922889, essv5916758
SamplesNA18870, HG01440, NA18523, NA18953, NA19144, NA18505
Known GenesPDE6A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663162
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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