A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658599



Internal ID9578018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:150833221..150833855hg38UCSC Ensembl
chr4:151754373..151755007hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg38635
hg19635
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6041164, essv5837205, essv5586660, essv6371080
SamplesNA19257, NA19444, NA19434, NA19470
Known GenesLRBA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658599
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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