A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602952



Internal ID6989985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:163093244..163097671hg38UCSC Ensembl
Innerchr4:163093244..163097671hg38UCSC Ensembl
Outerchr4:163093051..163097755hg38UCSC Ensembl
chr4:164014396..164018823hg19UCSC Ensembl
Innerchr4:164014396..164018823hg19UCSC Ensembl
Outerchr4:164014203..164018907hg19UCSC Ensembl
Cytoband4q32.2
Allele length
AssemblyAllele length
hg384428
hg194428
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11674337, essv11674342, essv11674339, essv11674335, essv11674341, essv11674336, essv11674338, essv11674340
SamplesNA19055, NA18988, NA19315, NA19054, HG01162, HG01095, NA19000, NA18983
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602952
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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