A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603191



Internal ID6990223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:172286974..172296448hg38UCSC Ensembl
Innerchr4:172286974..172296448hg38UCSC Ensembl
Outerchr4:172286716..172296523hg38UCSC Ensembl
chr4:173208125..173217599hg19UCSC Ensembl
Innerchr4:173208125..173217599hg19UCSC Ensembl
Outerchr4:173207867..173217674hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg389475
hg199475
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11702551
SamplesHG02722
Known GenesGALNTL6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603191
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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