A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11702552



Internal ID1704368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:172379354..172427586hg38UCSC Ensembl
Innerchr4:172379423..172427518hg38UCSC Ensembl
Outerchr4:172379286..172427655hg38UCSC Ensembl
chr4:173300505..173348737hg19UCSC Ensembl
Innerchr4:173300574..173348669hg19UCSC Ensembl
Outerchr4:173300437..173348806hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg3848233
hg1948233
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603192
Supporting Variants
SamplesHG02012
Known GenesGALNTL6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11702552
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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