A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5625775



Internal ID8603178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143168570..143170145hg38UCSC Ensembl
chr2:143926139..143927714hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg381576
hg191576
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667585
Supporting Variants
SamplesHG00231
Known GenesARHGAP15
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5625775
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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