A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659504



Internal ID9925609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41226711..41243859hg38UCSC Ensembl
chr5:41226813..41243961hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3817149
hg1917149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5905828, essv6340681, essv6118810, essv5950305, essv6571230, essv5411404
SamplesHG00634, NA18618, HG00512, HG00543, NA18555, NA19004
Known GenesC6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659504
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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