A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11181324



Internal ID1183140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:150425242..150429230hg38UCSC Ensembl
chr3:150143029..150147017hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg383989
hg193989
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598156
Supporting Variants
SamplesHG01303
Known GenesTSC22D2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11181324
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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