A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10598590



Internal ID6928814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:104585930..104587728hg38UCSC Ensembl
Innerchr2:104585933..104587726hg38UCSC Ensembl
Outerchr2:104585928..104587731hg38UCSC Ensembl
chr2:105202388..105204186hg19UCSC Ensembl
Innerchr2:105202391..105204184hg19UCSC Ensembl
Outerchr2:105202386..105204189hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg381799
hg191799
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591817
Supporting Variants
SamplesNA21120
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10598590
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