A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662046



Internal ID9581465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46464894..46466062hg38UCSC Ensembl
chr13:47039029..47040197hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg381169
hg191169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5827225, essv6558962, essv6010786, essv5524502, essv5503165, essv5846321, essv5693462, essv5441897, essv5704310, essv5973055, essv5932061, essv5667136, essv6546871, essv6571243, essv5735696, essv5587605, essv6470037, essv5718197, essv6537222, essv5499790, essv5398185, essv6333314, essv5523213, essv6282235, essv5534554, essv6194374, essv5504766, essv5949679, essv6252037, essv5493674, essv5574264
SamplesHG00613, HG01359, HG01518, HG01519, HG00500, HG00171, NA19469, NA19072, HG01079, NA19449, HG00187, NA18557, HG01521, HG00179, HG00250, NA19068, HG01437, HG00108, HG01516, NA19375, HG00560, HG00513, HG00534, NA19431, NA18602, HG00281, NA18984, NA18549, HG01522, HG00476, HG00702
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662046
Frequency
Sample Size1151
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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