A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12528696



Internal ID2530512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:122754516..122755448hg38UCSC Ensembl
Innerchr6:122754521..122755444hg38UCSC Ensembl
Outerchr6:122754512..122755453hg38UCSC Ensembl
chr6:123075661..123076593hg19UCSC Ensembl
Innerchr6:123075666..123076589hg19UCSC Ensembl
Outerchr6:123075657..123076598hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38933
hg19933
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610618
Supporting Variants
SamplesHG03124
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12528696
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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