A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590422



Internal ID6977751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38758519..38772634hg38UCSC Ensembl
Innerchr2:38758669..38772484hg38UCSC Ensembl
Outerchr2:38758369..38772784hg38UCSC Ensembl
chr2:38985661..38999776hg19UCSC Ensembl
Innerchr2:38985811..38999626hg19UCSC Ensembl
Outerchr2:38985511..38999926hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3814116
hg1914116
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10468508
SamplesHG02047
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590422
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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