A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647885



Internal ID6687938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44015172..44019239hg38UCSC Ensembl
Innerchr22:44015294..44019189hg38UCSC Ensembl
Outerchr22:44015010..44019401hg38UCSC Ensembl
chr22:44411052..44415119hg19UCSC Ensembl
Innerchr22:44411174..44415069hg19UCSC Ensembl
Outerchr22:44410890..44415281hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg384068
hg194068
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16436739, essv16436738, essv16436737, essv16436736
SamplesHG02657, NA21088, NA21102, NA21141
Known GenesPARVB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647885
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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