A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12653379



Internal ID2655196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:170307545..170312411hg38UCSC Ensembl
Innerchr6:170307579..170312377hg38UCSC Ensembl
Outerchr6:170307511..170312445hg38UCSC Ensembl
chr6:170616633..170621499hg19UCSC Ensembl
Innerchr6:170616667..170621465hg19UCSC Ensembl
Outerchr6:170616599..170621533hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg384867
hg194867
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611733
Supporting Variants
SamplesNA21127
Known GenesFAM120B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12653379
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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