A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12454875



Internal ID3182427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:85834835..85862774hg38UCSC Ensembl
Innerchr6:85834941..85862634hg38UCSC Ensembl
Outerchr6:85834586..85863023hg38UCSC Ensembl
chr6:86544553..86572492hg19UCSC Ensembl
Innerchr6:86544659..86572352hg19UCSC Ensembl
Outerchr6:86544304..86572741hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg3827940
hg1927940
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609824
Supporting Variants
SamplesHG02798
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12454875
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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