A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594720



Internal ID6982040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236024939..236044467hg38UCSC Ensembl
Innerchr2:236024974..236044432hg38UCSC Ensembl
Outerchr2:236024904..236044502hg38UCSC Ensembl
chr2:236933583..236953111hg19UCSC Ensembl
Innerchr2:236933618..236953076hg19UCSC Ensembl
Outerchr2:236933548..236953146hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg3819529
hg1919529
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10883577
SamplesHG03126
Known GenesAGAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594720
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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