A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594035



Internal ID6981356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:204673792..204686175hg38UCSC Ensembl
Innerchr2:204673814..204686153hg38UCSC Ensembl
Outerchr2:204673770..204686197hg38UCSC Ensembl
chr2:205538515..205550898hg19UCSC Ensembl
Innerchr2:205538537..205550876hg19UCSC Ensembl
Outerchr2:205538493..205550920hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3812384
hg1912384
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10827675
SamplesHG02439
Known GenesPARD3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594035
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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