A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11283962



Internal ID1285778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194592316..194799085hg38UCSC Ensembl
chr3:194313045..194519814hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38206770
hg19206770
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599208
Supporting Variants
SamplesHG02371
Known GenesFAM43A, LOC100507391, LSG1, TMEM44
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11283962
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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