A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599386



Internal ID6639651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1002501..1005131hg38UCSC Ensembl
Innerchr4:1002501..1005131hg38UCSC Ensembl
Outerchr4:1002338..1005279hg38UCSC Ensembl
chr4:996289..998919hg19UCSC Ensembl
Innerchr4:996289..998919hg19UCSC Ensembl
Outerchr4:996126..999067hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg382631
hg192631
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11315062
SamplesNA21114
Known GenesIDUA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599386
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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