A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600305



Internal ID6987349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40501645..40518978hg38UCSC Ensembl
Innerchr4:40501645..40518978hg38UCSC Ensembl
Outerchr4:40501145..40519478hg38UCSC Ensembl
chr4:40503662..40520995hg19UCSC Ensembl
Innerchr4:40503662..40520995hg19UCSC Ensembl
Outerchr4:40503162..40521495hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3817334
hg1917334
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11404641
SamplesNA19783
Known GenesMIR4802, RBM47
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600305
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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