A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610782



Internal ID6997699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:130185428..130186887hg38UCSC Ensembl
Innerchr6:130185471..130186845hg38UCSC Ensembl
Outerchr6:130185386..130186930hg38UCSC Ensembl
chr6:130506573..130508032hg19UCSC Ensembl
Innerchr6:130506616..130507990hg19UCSC Ensembl
Outerchr6:130506531..130508075hg19UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg381460
hg191460
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12546266, essv12546264, essv12546265
SamplesHG03673, NA19347, HG03829
Known GenesSAMD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610782
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