A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16361250



Internal ID6363066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17679173..17682249hg38UCSC Ensembl
Innerchr22:17679173..17682249hg38UCSC Ensembl
Outerchr22:17679012..17682353hg38UCSC Ensembl
chr22:18161939..18165015hg19UCSC Ensembl
Innerchr22:18161939..18165015hg19UCSC Ensembl
Outerchr22:18161778..18165119hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg383077
hg193077
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647232
Supporting Variants
SamplesHG02496
Known GenesBCL2L13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16361250
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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