A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647766



Internal ID7034505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39472497..39476105hg38UCSC Ensembl
Innerchr22:39472497..39476105hg38UCSC Ensembl
Outerchr22:39472453..39476154hg38UCSC Ensembl
chr22:39868502..39872110hg19UCSC Ensembl
Innerchr22:39868502..39872110hg19UCSC Ensembl
Outerchr22:39868458..39872159hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg383609
hg193609
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16427857
SamplesHG03978
Known GenesMGAT3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647766
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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