A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12232445



Internal ID2234261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:25404907..25419303hg38UCSC Ensembl
chr6:25405135..25419531hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3814397
hg1914397
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608383
Supporting Variants
SamplesNA12340
Known GenesLRRC16A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12232445
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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