A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600289



Internal ID6987333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39706116..39710451hg38UCSC Ensembl
Innerchr4:39706116..39710451hg38UCSC Ensembl
Outerchr4:39705616..39710951hg38UCSC Ensembl
chr4:39707736..39712071hg19UCSC Ensembl
Innerchr4:39707736..39712071hg19UCSC Ensembl
Outerchr4:39707236..39712571hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg384336
hg194336
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11401410, essv11401409, essv11401404, essv11401411, essv11401405, essv11401408, essv11401406, essv11401412, essv11401402, essv11401398, essv11401399, essv11401400, essv11401403, essv11401401, essv11401407
SamplesHG00351, HG01500, HG00122, NA11930, HG01525, HG00137, NA12760, HG00380, HG00101, HG00368, HG00273, NA12716, HG00136, HG01113, HG00116
Known GenesUBE2K
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600289
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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