A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670420



Internal ID9589839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:143756884..143759844hg38UCSC Ensembl
Outerchr2:143756847..143759894hg38UCSC Ensembl
Innerchr2:144514453..144517413hg19UCSC Ensembl
Outerchr2:144514416..144517463hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg383048
hg193048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6314035, essv6106268
SamplesNA19077, NA19058
Known GenesARHGAP15
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670420
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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