A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10825277



Internal ID827093
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594009
Supporting Variants
SamplesHG03754
Known GenesCYP20A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10825277
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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