A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590219



Internal ID6977548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31358235..31364513hg38UCSC Ensembl
Innerchr2:31358274..31364474hg38UCSC Ensembl
Outerchr2:31358196..31364552hg38UCSC Ensembl
chr2:31581101..31587379hg19UCSC Ensembl
Innerchr2:31581140..31587340hg19UCSC Ensembl
Outerchr2:31581062..31587418hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg386279
hg196279
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10445029
SamplesNA20850
Known GenesXDH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590219
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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