A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647627



Internal ID6687681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33391028..33392149hg38UCSC Ensembl
Innerchr22:33391028..33392149hg38UCSC Ensembl
Outerchr22:33390838..33392265hg38UCSC Ensembl
chr22:33787014..33788135hg19UCSC Ensembl
Innerchr22:33787014..33788135hg19UCSC Ensembl
Outerchr22:33786824..33788251hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381122
hg191122
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16408487, essv16408486
SamplesHG01047, HG01393
Known GenesLARGE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647627
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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