A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603210



Internal ID6643466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:173249908..173255229hg38UCSC Ensembl
Innerchr4:173249941..173255196hg38UCSC Ensembl
Outerchr4:173249875..173255262hg38UCSC Ensembl
chr4:174171059..174176380hg19UCSC Ensembl
Innerchr4:174171092..174176347hg19UCSC Ensembl
Outerchr4:174171026..174176413hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg385322
hg195322
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11707403, essv11707402
SamplesHG02646, NA19720
Known GenesGALNT7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603210
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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