A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677029



Internal ID9596448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39211141..39289872hg38UCSC Ensembl
chr2:39438282..39517013hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3878732
hg1978732
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6514414
SamplesHG00437
Known GenesCDKL4, MAP4K3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677029
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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