A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589756



Internal ID6977086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8428172..8443733hg38UCSC Ensembl
Innerchr2:8428672..8443233hg38UCSC Ensembl
Outerchr2:8427172..8444733hg38UCSC Ensembl
chr2:8568302..8583863hg19UCSC Ensembl
Innerchr2:8568802..8583363hg19UCSC Ensembl
Outerchr2:8567302..8584863hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3815562
hg1915562
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10404090, essv10404091
SamplesHG00656, HG02353
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589756
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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