A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594051



Internal ID6981372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:205249010..205257062hg38UCSC Ensembl
Innerchr2:205249510..205256562hg38UCSC Ensembl
Outerchr2:205248010..205258062hg38UCSC Ensembl
chr2:206113734..206121786hg19UCSC Ensembl
Innerchr2:206114234..206121286hg19UCSC Ensembl
Outerchr2:206112734..206122786hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg388053
hg198053
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10828241, essv10828235, essv10828239, essv10828238, essv10828237, essv10828242, essv10828236, essv10828240
SamplesHG00096, HG00114, NA20766, HG00244, NA12760, NA12778, NA12830, HG01883
Known GenesPARD3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594051
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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