A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11927015



Internal ID4252452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:62352619..62395105hg38UCSC Ensembl
chr5:61648446..61690932hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3842487
hg1942487
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605233
Supporting Variants
SamplesHG03823
Known GenesDIMT1, KIF2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11927015
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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