A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16435362



Internal ID2464591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43172849..43175947hg38UCSC Ensembl
Innerchr22:43172860..43175936hg38UCSC Ensembl
Outerchr22:43172838..43175958hg38UCSC Ensembl
chr22:43568855..43571953hg19UCSC Ensembl
Innerchr22:43568866..43571942hg19UCSC Ensembl
Outerchr22:43568844..43571964hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg383099
hg193099
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647857
Supporting Variants
SamplesHG02178
Known GenesTTLL12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16435362
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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