A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10687107



Internal ID5578629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:137572806..137765124hg38UCSC Ensembl
chr2:138330376..138522694hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38192319
hg19192319
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592631
Supporting Variants
SamplesNA19023
Known GenesTHSD7B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10687107
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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