A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647674



Internal ID6687728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:35887115..35891633hg38UCSC Ensembl
Innerchr22:35887115..35891633hg38UCSC Ensembl
Outerchr22:35886996..35891747hg38UCSC Ensembl
chr22:36283162..36287680hg19UCSC Ensembl
Innerchr22:36283162..36287680hg19UCSC Ensembl
Outerchr22:36283043..36287794hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg384519
hg194519
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16413519, essv16413518, essv16413517
SamplesHG02006, NA19390, NA20339
Known GenesRBFOX2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647674
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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