A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12462294



Internal ID5711460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:92356711..92440614hg38UCSC Ensembl
chr6:93066429..93150332hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg3883904
hg1983904
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609962
Supporting Variants
SamplesNA19093
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12462294
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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