A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10989201



Internal ID4348408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:40342143..40444686hg38UCSC Ensembl
chr3:40383634..40486177hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38102544
hg19102544
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595947
Supporting Variants
SamplesHG03886
Known GenesENTPD3, ENTPD3-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10989201
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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