A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12354064



Internal ID3559316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52928101..52931588hg38UCSC Ensembl
chr6:52792899..52796386hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg383488
hg193488
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609014
Supporting Variants
SamplesHG03136
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12354064
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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