A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10470753



Internal ID472569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39210723..39254479hg38UCSC Ensembl
chr2:39437864..39481620hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3843757
hg1943757
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590429
Supporting Variants
SamplesHG00437
Known GenesCDKL4, MAP4K3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10470753
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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