A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12239542



Internal ID2241358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:28881292..28919969hg38UCSC Ensembl
chr6:28849069..28887746hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3838678
hg1938678
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608464
Supporting Variants
SamplesHG03469
Known GenesHCG14, TRIM27
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12239542
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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