A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12581406



Internal ID1796155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:151066476..151076925hg38UCSC Ensembl
chr6:151387612..151398061hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3810450
hg1910450
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611247
Supporting Variants
SamplesHG01675
Known GenesMTHFD1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12581406
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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