A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590249



Internal ID6630536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32403872..33107363hg38UCSC Ensembl
Innerchr2:32404022..33107213hg38UCSC Ensembl
Outerchr2:32403722..33107513hg38UCSC Ensembl
chr2:32628940..33332430hg19UCSC Ensembl
Innerchr2:32629090..33332280hg19UCSC Ensembl
Outerchr2:32628790..33332580hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38703492
hg19703491
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10447704, essv10447705
SamplesNA19055, HG00275
Known GenesBIRC6, LINC00486, LOC100271832, LTBP1, MIR4765, MIR558, TTC27
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590249
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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