A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5514553



Internal ID9295965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172437762..172439739hg38UCSC Ensembl
chr2:173302490..173304467hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381978
hg191978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2677918
Supporting Variants
SamplesNA12842
Known GenesITGA6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5514553
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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