A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678054



Internal ID9944159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:132377277..132377397hg38UCSC Ensembl
Outerchr9:132377232..132377469hg38UCSC Ensembl
Innerchr9:135252664..135252784hg19UCSC Ensembl
Outerchr9:135252619..135252856hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5940792, essv5663356, essv6474414, essv6554120, essv6035617, essv5737977, essv5808809, essv6391465, essv5790648, essv6410488, essv5700478, essv6310479, essv5800514, essv6137695, essv6365745, essv5460500, essv6425268, essv6001788, essv6394168, essv6521258, essv5400181, essv6050604, essv6554321
SamplesHG00114, NA18621, HG00671, NA19359, NA18616, NA19443, NA19313, HG00512, HG00422, HG00739, HG00149, NA19077, HG00657, HG01515, NA20760, HG00284, HG00463, HG00662, NA19328, HG00698, HG00343, NA18612, NA19431
Known GenesTTF1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678054
Frequency
Sample Size1151
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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