A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592757



Internal ID6633040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143756804..143759778hg38UCSC Ensembl
Innerchr2:143756854..143759728hg38UCSC Ensembl
Outerchr2:143756754..143759828hg38UCSC Ensembl
chr2:144514373..144517347hg19UCSC Ensembl
Innerchr2:144514423..144517297hg19UCSC Ensembl
Outerchr2:144514323..144517397hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg382975
hg192975
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10695715, essv10695712, essv10695714, essv10695713
SamplesNA18969, NA19077, NA18970, NA19058
Known GenesARHGAP15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592757
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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