A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667585



Internal ID9587004
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6476702, essv5625775, essv6314596, essv6141171, essv6059580, essv5845663
SamplesHG01079, HG00231, HG00108, HG00116, HG01334, HG01390
Known GenesARHGAP15
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667585
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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