A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6287433



Internal ID9264836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88747321..88747649hg38UCSC Ensembl
chr5:88043138..88043466hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2657453
Supporting Variants
SamplesNA18626
Known GenesMEF2C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6287433
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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