A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6353113



Internal ID9330516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:47917630..47921905hg38UCSC Ensembl
Outerchr13:47917473..47922058hg38UCSC Ensembl
Innerchr13:48491765..48496040hg19UCSC Ensembl
Outerchr13:48491608..48496193hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg384586
hg194586
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2659637
Supporting Variants
SamplesHG00554
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6353113
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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