A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6478985



Internal ID8996320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:183753151..183754483hg38UCSC Ensembl
Outerchr4:183752994..183754636hg38UCSC Ensembl
Innerchr4:184674304..184675636hg19UCSC Ensembl
Outerchr4:184674147..184675789hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg381643
hg191643
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2676664
Supporting Variants
SamplesHG00593
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6478985
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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