A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647232



Internal ID6687287
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16361251, essv16361255, essv16361252, essv16361250, essv16361254, essv16361249, essv16361256, essv16361253
SamplesHG02496, NA19030, HG03247, HG03265, HG01577, NA19042, NA19374, HG02628
Known GenesBCL2L13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647232
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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