A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647226



Internal ID6687281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17584572..17586555hg38UCSC Ensembl
Innerchr22:17584641..17586487hg38UCSC Ensembl
Outerchr22:17584504..17586624hg38UCSC Ensembl
chr22:18067338..18069321hg19UCSC Ensembl
Innerchr22:18067407..18069253hg19UCSC Ensembl
Outerchr22:18067270..18069390hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381984
hg191984
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16360544, essv16360541, essv16360543, essv16360545, essv16360542
SamplesHG01811, NA18561, NA19055, HG00590, HG00598
Known GenesSLC25A18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647226
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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