A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592855



Internal ID6980182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:149060954..149062181hg38UCSC Ensembl
Innerchr2:149060954..149062181hg38UCSC Ensembl
Outerchr2:149060777..149062474hg38UCSC Ensembl
chr2:149917468..149918695hg19UCSC Ensembl
Innerchr2:149917468..149918695hg19UCSC Ensembl
Outerchr2:149917291..149918988hg19UCSC Ensembl
Cytoband2q23.2
Allele length
AssemblyAllele length
hg381228
hg191228
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10708781, essv10708778, essv10708779, essv10708780
SamplesNA19443, NA19383, NA19440, NA19474
Known GenesLYPD6B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592855
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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