A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10447705



Internal ID449521
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590249
Supporting Variants
SamplesNA19055
Known GenesBIRC6, LINC00486, LOC100271832, LTBP1, MIR4765, MIR558, TTC27
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10447705
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer