A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588690



Internal ID6976106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:208551222..208565228hg38UCSC Ensembl
Innerchr1:208551279..208565171hg38UCSC Ensembl
Outerchr1:208551165..208565285hg38UCSC Ensembl
chr1:208724567..208738573hg19UCSC Ensembl
Innerchr1:208724624..208738516hg19UCSC Ensembl
Outerchr1:208724510..208738630hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3814007
hg1914007
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10281354
SamplesNA18534
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588690
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