A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594009



Internal ID6634286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203246954..203248349hg38UCSC Ensembl
Innerchr2:203247004..203248299hg38UCSC Ensembl
Outerchr2:203246904..203248399hg38UCSC Ensembl
chr2:204111677..204113072hg19UCSC Ensembl
Innerchr2:204111727..204113022hg19UCSC Ensembl
Outerchr2:204111627..204113122hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg381396
hg191396
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10825277
SamplesHG03754
Known GenesCYP20A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594009
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