A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5805162



Internal ID8761336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:69964323..69964736hg38UCSC Ensembl
chr3:70013474..70013887hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38414
hg19414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2656588
Supporting Variants
SamplesHG00152
Known GenesMITF
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5805162
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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