A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12565508



Internal ID540065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:137575949..137643013hg38UCSC Ensembl
chr6:137897086..137964150hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg3867065
hg1967065
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610942
Supporting Variants
SamplesHG00235
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12565508
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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