A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591428



Internal ID6978756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:80703236..80723573hg38UCSC Ensembl
Innerchr2:80703236..80723573hg38UCSC Ensembl
Outerchr2:80702736..80724073hg38UCSC Ensembl
chr2:80930361..80950698hg19UCSC Ensembl
Innerchr2:80930361..80950698hg19UCSC Ensembl
Outerchr2:80929861..80951198hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3820338
hg1920338
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10559412
SamplesHG03388
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591428
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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