A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11259962



Internal ID1261778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:186668458..186717451hg38UCSC Ensembl
chr3:186386247..186435240hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg3848994
hg1948994
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598992
Supporting Variants
SamplesNA12813
Known GenesHRG, KNG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11259962
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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