A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11316914



Internal ID732595
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599402
Supporting Variants
SamplesHG00343
Known GenesLOC402160
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11316914
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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