A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647438



Internal ID7034179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:24669688..24713966hg38UCSC Ensembl
Innerchr22:24669747..24713908hg38UCSC Ensembl
Outerchr22:24669630..24714025hg38UCSC Ensembl
chr22:25065655..25109933hg19UCSC Ensembl
Innerchr22:25065714..25109875hg19UCSC Ensembl
Outerchr22:25065597..25109992hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3844279
hg1944279
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16394313, essv16394311, essv16394312
SamplesHG03696, HG03740, HG00258
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647438
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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