A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591934



Internal ID6979262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:108944509..108948056hg38UCSC Ensembl
Innerchr2:108944518..108948048hg38UCSC Ensembl
Outerchr2:108944501..108948065hg38UCSC Ensembl
chr2:109560965..109564512hg19UCSC Ensembl
Innerchr2:109560974..109564504hg19UCSC Ensembl
Outerchr2:109560957..109564521hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg383548
hg193548
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10612311, essv10612306, essv10612305, essv10612308, essv10612310, essv10612309, essv10612307, essv10612304
SamplesHG03885, HG03007, NA21098, HG03967, HG03643, NA21142, HG04239, HG04209
Known GenesEDAR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591934
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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