A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592371



Internal ID6979698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127912500..127919445hg38UCSC Ensembl
Innerchr2:127912539..127919407hg38UCSC Ensembl
Outerchr2:127912462..127919484hg38UCSC Ensembl
chr2:128670074..128677019hg19UCSC Ensembl
Innerchr2:128670113..128676981hg19UCSC Ensembl
Outerchr2:128670036..128677058hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg386946
hg196946
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10664744, essv10664749, essv10664753, essv10664748, essv10664747, essv10664754, essv10664751, essv10664757, essv10664746, essv10664752, essv10664755, essv10664745, essv10664750, essv10664756
SamplesNA21097, NA21103, NA18539, HG04177, NA20866, NA21087, HG04186, HG02694, HG02699, NA21093, HG03894, HG04153, HG03985, HG01583
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592371
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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