A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16436789



Internal ID767502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44168044..44172118hg38UCSC Ensembl
Innerchr22:44168061..44172101hg38UCSC Ensembl
Outerchr22:44168027..44172135hg38UCSC Ensembl
chr22:44563924..44567998hg19UCSC Ensembl
Innerchr22:44563941..44567981hg19UCSC Ensembl
Outerchr22:44563907..44568015hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg384075
hg194075
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647888
Supporting Variants
SamplesHG00364
Known GenesPARVB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16436789
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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