A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609270



Internal ID6996192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:63843764..63846243hg38UCSC Ensembl
Innerchr6:63843764..63846243hg38UCSC Ensembl
Outerchr6:63843369..63846618hg38UCSC Ensembl
chr6:64553657..64556136hg19UCSC Ensembl
Innerchr6:64553657..64556136hg19UCSC Ensembl
Outerchr6:64553262..64556511hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg382480
hg192480
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12389919
SamplesHG00476
Known GenesEYS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609270
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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