A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6480717



Internal ID9458120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151793742..151833274hg38UCSC Ensembl
chr3:151511530..151551062hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3839533
hg1939533
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2672544
Supporting Variants
SamplesHG00319
Known GenesAADAC, MIR548H2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6480717
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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