A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5413222



Internal ID9718180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:87264580..87307228hg38UCSC Ensembl
chr4:88185732..88228380hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3842649
hg1942649
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667644
Supporting Variants
SamplesNA19470
Known GenesHSD17B13, MIR5705
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5413222
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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