A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599402



Internal ID6986450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2434843..2444572hg38UCSC Ensembl
Innerchr4:2434883..2444532hg38UCSC Ensembl
Outerchr4:2434803..2444612hg38UCSC Ensembl
chr4:2436570..2446299hg19UCSC Ensembl
Innerchr4:2436610..2446259hg19UCSC Ensembl
Outerchr4:2436530..2446339hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg389730
hg199730
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11316914
SamplesHG00343
Known GenesLOC402160
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599402
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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