A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12411288



Internal ID4586334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:70338939..70355355hg38UCSC Ensembl
Innerchr6:70338985..70355310hg38UCSC Ensembl
Outerchr6:70338894..70355401hg38UCSC Ensembl
chr6:71048642..71065058hg19UCSC Ensembl
Innerchr6:71048688..71065013hg19UCSC Ensembl
Outerchr6:71048597..71065104hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3816417
hg1916417
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609435
Supporting Variants
SamplesHG04098
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12411288
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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