A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12386643



Internal ID2657267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:61125347..61184886hg38UCSC Ensembl
chr6:62052828..62112367hg19UCSC Ensembl
Cytoband6q11.1
Allele length
AssemblyAllele length
hg3859540
hg1959540
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609199
Supporting Variants
SamplesHG02351
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12386643
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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