A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6350937



Internal ID9567324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44168836..44170042hg38UCSC Ensembl
Outerchr22:44168465..44170412hg38UCSC Ensembl
Innerchr22:44564716..44565922hg19UCSC Ensembl
Outerchr22:44564345..44566292hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381948
hg191948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2672411
Supporting Variants
SamplesNA19116
Known GenesPARVB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6350937
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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