A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6230013



Internal ID9159320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:22117443..22122591hg38UCSC Ensembl
chr5:22117552..22122700hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg385149
hg195149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2657445
Supporting Variants
SamplesHG01354
Known GenesCDH12
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6230013
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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