A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608282



Internal ID6995212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:19814587..19821001hg38UCSC Ensembl
Innerchr6:19814587..19821001hg38UCSC Ensembl
Outerchr6:19814342..19821277hg38UCSC Ensembl
chr6:19814818..19821232hg19UCSC Ensembl
Innerchr6:19814818..19821232hg19UCSC Ensembl
Outerchr6:19814573..19821508hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg386415
hg196415
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12215645, essv12215646, essv12215644
SamplesNA12286, NA18632, NA18564
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608282
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer