A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592721



Internal ID6980048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:141844657..141846019hg38UCSC Ensembl
Innerchr2:141844657..141846019hg38UCSC Ensembl
Outerchr2:141844481..141846363hg38UCSC Ensembl
chr2:142602226..142603588hg19UCSC Ensembl
Innerchr2:142602226..142603588hg19UCSC Ensembl
Outerchr2:142602050..142603932hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg381363
hg191363
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10694084, essv10694087, essv10694088, essv10694089, essv10694090, essv10694086, essv10694085
SamplesHG02804, HG02420, HG02878, HG03472, HG03446, HG03451, HG02983
Known GenesLRP1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592721
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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