A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11538608



Internal ID2668747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:94127706..94176862hg38UCSC Ensembl
Innerchr4:94127716..94176853hg38UCSC Ensembl
Outerchr4:94127697..94176872hg38UCSC Ensembl
chr4:95048857..95098013hg19UCSC Ensembl
Innerchr4:95048867..95098004hg19UCSC Ensembl
Outerchr4:95048848..95098023hg19UCSC Ensembl
Cytoband4q22.2
Allele length
AssemblyAllele length
hg3849157
hg1949157
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601445
Supporting Variants
SamplesHG02364
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11538608
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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