A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600547



Internal ID6987589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:55064127..55065120hg38UCSC Ensembl
Innerchr4:55064144..55065104hg38UCSC Ensembl
Outerchr4:55064111..55065137hg38UCSC Ensembl
chr4:55930294..55931287hg19UCSC Ensembl
Innerchr4:55930311..55931271hg19UCSC Ensembl
Outerchr4:55930278..55931304hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38994
hg19994
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11438636, essv11438643, essv11438638, essv11438642, essv11438639, essv11438632, essv11438637, essv11438641, essv11438645, essv11438640, essv11438644, essv11438634, essv11438633, essv11438635
SamplesHG03517, HG03521, HG03499, NA19207, HG03073, NA19210, HG03088, HG02450, HG02757, NA19042, HG02635, HG02484, HG02941, HG02771
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600547
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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