A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590014



Internal ID6977342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:21329077..21332091hg38UCSC Ensembl
Innerchr2:21329094..21332075hg38UCSC Ensembl
Outerchr2:21329061..21332108hg38UCSC Ensembl
chr2:21551949..21554963hg19UCSC Ensembl
Innerchr2:21551966..21554947hg19UCSC Ensembl
Outerchr2:21551933..21554980hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg383015
hg193015
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10427329
SamplesNA19440
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590014
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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