A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11718814



Internal ID2058471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:177046855..177230076hg38UCSC Ensembl
chr4:177968009..178151230hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg38183222
hg19183222
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603291
Supporting Variants
SamplesHG01878
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11718814
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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