A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12566238



Internal ID2568054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:139144409..139157861hg38UCSC Ensembl
chr6:139465546..139478998hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg3813453
hg1913453
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610966
Supporting Variants
SamplesHG02397
Known GenesHECA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12566238
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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