A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602000



Internal ID6989035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:120795616..120796701hg38UCSC Ensembl
Innerchr4:120795632..120796686hg38UCSC Ensembl
Outerchr4:120795601..120796717hg38UCSC Ensembl
chr4:121716771..121717856hg19UCSC Ensembl
Innerchr4:121716787..121717841hg19UCSC Ensembl
Outerchr4:121716756..121717872hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg381086
hg191086
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11589052, essv11589051
SamplesHG01797, HG00598
Known GenesPRDM5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602000
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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