A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11404751



Internal ID2570859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40633581..40635163hg38UCSC Ensembl
Innerchr4:40633621..40635123hg38UCSC Ensembl
Outerchr4:40633541..40635203hg38UCSC Ensembl
chr4:40635598..40637180hg19UCSC Ensembl
Innerchr4:40635638..40637140hg19UCSC Ensembl
Outerchr4:40635558..40637220hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg381583
hg191583
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600314
Supporting Variants
SamplesHG02281
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11404751
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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