A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593974



Internal ID6634252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201198802..201212212hg38UCSC Ensembl
Innerchr2:201198952..201212062hg38UCSC Ensembl
Outerchr2:201198652..201212362hg38UCSC Ensembl
chr2:202063525..202076935hg19UCSC Ensembl
Innerchr2:202063675..202076785hg19UCSC Ensembl
Outerchr2:202063375..202077085hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3813411
hg1913411
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10823029, essv10823028
SamplesHG02385, NA18638
Known GenesCASP10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593974
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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