A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12464116



Internal ID6832622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:92933301..92963861hg38UCSC Ensembl
Innerchr6:92933801..92963361hg38UCSC Ensembl
Outerchr6:92932301..92964861hg38UCSC Ensembl
chr6:93643019..93673579hg19UCSC Ensembl
Innerchr6:93643519..93673079hg19UCSC Ensembl
Outerchr6:93642019..93674579hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg3830561
hg1930561
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609979
Supporting Variants
SamplesNA20904
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12464116
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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