A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12430130



Internal ID3029370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:74742073..74855386hg38UCSC Ensembl
chr6:75451789..75565102hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38113314
hg19113314
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609557
Supporting Variants
SamplesHG02666
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12430130
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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