A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658892



Internal ID9924997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:212908224..212914380hg38UCSC Ensembl
Outerchr1:212907853..212914750hg38UCSC Ensembl
Innerchr1:213081566..213087722hg19UCSC Ensembl
Outerchr1:213081195..213088092hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg386898
hg196898
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv97e199
Supporting Variantsessv6554242, essv5501145, essv5697590, essv6201307, essv6096369, essv6558022, essv5498440, essv5758971, essv6292090, essv5615527, essv6410409, essv5792281, essv5733151, essv6348956, essv6277727, essv6038143, essv5924020, essv6540037, essv5665095, essv6066180, essv5976185, essv5416992, essv5852046, essv6337219, essv6070867, essv6357985, essv6451402, essv6404277, essv5420629, essv5562394, essv5537158, essv6463264, essv6498820, essv5572463
SamplesHG00114, HG00242, HG00100, HG00257, HG00261, HG00138, HG00158, HG00120, HG00106, HG00236, HG00156, HG00262, HG00232, HG00159, HG00253, HG00260, HG00137, HG00133, HG00154, HG00149, HG00250, HG01334, HG00152, HG00146, HG00124, HG00254, HG00119, HG00265, HG00136, HG00237, HG00116, HG00256, HG00123, HG00252
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658892
Frequency
Sample Size1151
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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