A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10695745



Internal ID697561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:144363530..144368677hg38UCSC Ensembl
Innerchr2:144363530..144368677hg38UCSC Ensembl
Outerchr2:144363030..144369177hg38UCSC Ensembl
chr2:145121097..145126244hg19UCSC Ensembl
Innerchr2:145121097..145126244hg19UCSC Ensembl
Outerchr2:145120597..145126744hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg385148
hg195148
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592767
Supporting Variants
SamplesNA19376
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10695745
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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