A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10485533



Internal ID5906231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45057579..45065106hg38UCSC Ensembl
Innerchr2:45057630..45065056hg38UCSC Ensembl
Outerchr2:45057529..45065157hg38UCSC Ensembl
chr2:45284718..45292245hg19UCSC Ensembl
Innerchr2:45284769..45292195hg19UCSC Ensembl
Outerchr2:45284668..45292296hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg387528
hg197528
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590574
Supporting Variants
SamplesNA19320
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10485533
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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