A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602172



Internal ID6989206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:128993604..129000338hg38UCSC Ensembl
Innerchr4:128993648..129000294hg38UCSC Ensembl
Outerchr4:128993560..129000382hg38UCSC Ensembl
chr4:129914759..129921493hg19UCSC Ensembl
Innerchr4:129914803..129921449hg19UCSC Ensembl
Outerchr4:129914715..129921537hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg386735
hg196735
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11597532
SamplesHG00699
Known GenesSCLT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602172
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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