A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594268



Internal ID6981588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214836997..214925696hg38UCSC Ensembl
Innerchr2:214836997..214925696hg38UCSC Ensembl
Outerchr2:214836497..214926196hg38UCSC Ensembl
chr2:215701721..215790420hg19UCSC Ensembl
Innerchr2:215701721..215790420hg19UCSC Ensembl
Outerchr2:215701221..215790920hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3888700
hg1988700
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10843742
SamplesHG02697
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594268
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