A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608825



Internal ID6995749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44180609..44184716hg38UCSC Ensembl
chr6:44148346..44152453hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg384108
hg194108
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12332877
SamplesNA18747
Known GenesCAPN11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608825
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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