A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10559412



Internal ID3759715
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591428
Supporting Variants
SamplesHG03388
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10559412
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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