A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12612015



Internal ID2613831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:160011858..160143681hg38UCSC Ensembl
chr6:160432890..160564713hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38131824
hg19131824
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611425
Supporting Variants
SamplesNA18953
Known GenesIGF2R, LOC729603, SLC22A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12612015
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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