A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14556645



Internal ID1764117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:85047301..85089775hg38UCSC Ensembl
chr12:85441079..85483553hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3842475
hg1942475
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630232
Supporting Variants
SamplesHG01624
Known GenesLRRIQ1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14556645
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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