A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5863215



Internal ID8840618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130625264..131605218hg38UCSC Ensembl
chr2:131382837..132362791hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38979955
hg19979955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2670824
Supporting Variants
SamplesNA19088
Known GenesAMER3, ARHGEF4, CCDC74A, CYP4F30P, FAM168B, GPR148, LINC01120, LOC150776, LOC401010, LOC440910, MIR4784, MZT2A, PLEKHB2, POTEE, POTEJ, POTEKP, RNU6-81P, TUBA3D, WTH3DI
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5863215
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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