A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6506558



Internal ID9483961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:62401859..62409805hg38UCSC Ensembl
chr5:61697686..61705632hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg387947
hg197947
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2659593
Supporting Variants
SamplesNA18602
Known GenesDIMT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6506558
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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