A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647445



Internal ID6687500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:24922723..24985586hg38UCSC Ensembl
Innerchr22:24922873..24985436hg38UCSC Ensembl
Outerchr22:24922573..24985736hg38UCSC Ensembl
chr22:25318690..25381553hg19UCSC Ensembl
Innerchr22:25318840..25381403hg19UCSC Ensembl
Outerchr22:25318540..25381703hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3862864
hg1962864
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16394402
SamplesHG01134
Known GenesSGSM1, TMEM211
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647445
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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