A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12051505



Internal ID3857357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126894710..126905929hg38UCSC Ensembl
chr5:126230402..126241621hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3811220
hg1911220
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606694
Supporting Variants
SamplesHG03488
Known GenesMARCH3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12051505
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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