A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6084043



Internal ID9061446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68508039..68625352hg38UCSC Ensembl
chr4:69373757..69491070hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38117314
hg19117314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2675086
Supporting Variants
SamplesNA19003
Known GenesUGT2B17
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6084043
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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