A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596498



Internal ID6983813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:69356100..69362726hg38UCSC Ensembl
Innerchr3:69356100..69362726hg38UCSC Ensembl
Outerchr3:69355923..69362856hg38UCSC Ensembl
chr3:69405251..69411877hg19UCSC Ensembl
Innerchr3:69405251..69411877hg19UCSC Ensembl
Outerchr3:69405074..69412007hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg386627
hg196627
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11036870
SamplesHG00119
Known GenesFRMD4B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596498
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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