A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12501312



Internal ID1972130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:110233221..110242402hg38UCSC Ensembl
Innerchr6:110233221..110242402hg38UCSC Ensembl
Outerchr6:110232721..110242902hg38UCSC Ensembl
chr6:110554424..110563605hg19UCSC Ensembl
Innerchr6:110554424..110563605hg19UCSC Ensembl
Outerchr6:110553924..110564105hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg389182
hg199182
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610351
Supporting Variants
SamplesHG01840
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12501312
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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