A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16403904



Internal ID6405720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31404740..31405853hg38UCSC Ensembl
Innerchr22:31404740..31405853hg38UCSC Ensembl
Outerchr22:31404542..31406085hg38UCSC Ensembl
chr22:31800726..31801839hg19UCSC Ensembl
Innerchr22:31800726..31801839hg19UCSC Ensembl
Outerchr22:31800528..31802071hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg381114
hg191114
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647585
Supporting Variants
SamplesNA19072
Known GenesDRG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16403904
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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