A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592044



Internal ID6632327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:114397692..114726043hg38UCSC Ensembl
Innerchr2:114397842..114725893hg38UCSC Ensembl
Outerchr2:114397542..114726193hg38UCSC Ensembl
chr2:115155269..115483620hg19UCSC Ensembl
Innerchr2:115155419..115483470hg19UCSC Ensembl
Outerchr2:115155119..115483770hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38328352
hg19328352
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10632585
SamplesHG03949
Known GenesDPP10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592044
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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