A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3328174



Internal ID14828452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143547408..143547418hg38UCSC Ensembl
Innerchr2:143547404..143547420hg38UCSC Ensembl
Outerchr2:143547394..143547430hg38UCSC Ensembl
chr2:144304977..144304987hg19UCSC Ensembl
Innerchr2:144304973..144304989hg19UCSC Ensembl
Outerchr2:144304963..144304999hg19UCSC Ensembl
chr2:144021447..144021457hg18UCSC Ensembl
Innerchr2:144021459..144021443hg18UCSC Ensembl
Outerchr2:144021433..144021469hg18UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg386029
hg196029
hg186029
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8674473, essv8674472
SamplesNA12891, NA12878
Known GenesARHGAP15
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3328174
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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