A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671450



Internal ID9937555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:47712281..47718787hg38UCSC Ensembl
Outerchr13:47711910..47719157hg38UCSC Ensembl
Innerchr13:48286416..48292922hg19UCSC Ensembl
Outerchr13:48286045..48293292hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg387248
hg197248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5934286, essv6124573, essv6414669, essv5573848, essv5833398, essv5438760, essv5579294, essv6422419, essv5413056, essv6116084, essv5986868, essv6027744, essv6595757, essv6308658, essv5948127, essv5775085, essv5798375, essv6252609, essv5688337
SamplesHG01356, HG01465, HG01140, HG01350, HG01354, HG01134, HG01455, HG01550, HG01124, HG01384, HG01149, HG01383, HG01551, HG01357, HG01113, HG01137, HG01489, HG01254, HG01125
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671450
Frequency
Sample Size1151
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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