A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599536



Internal ID6986582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:7795564..7797434hg38UCSC Ensembl
Innerchr4:7795584..7797414hg38UCSC Ensembl
Outerchr4:7795544..7797454hg38UCSC Ensembl
chr4:7797291..7799161hg19UCSC Ensembl
Innerchr4:7797311..7799141hg19UCSC Ensembl
Outerchr4:7797271..7799181hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381871
hg191871
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv975e214
Supporting Variantsessv11337879
SamplesNA11893
Known GenesAFAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599536
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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