A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658840



Internal ID9924945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:121225813..121226182hg38UCSC Ensembl
chr2:121983389..121983758hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38370
hg19370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5747533, essv5803271, essv5992636, essv6383476, essv5582689, essv6226722, essv6225380
SamplesNA19190, NA19404, NA19385, NA19707, NA19401, NA19311, NA18620
Known GenesTFCP2L1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658840
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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