A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11443837



Internal ID5249867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:57792014..57792903hg38UCSC Ensembl
Innerchr4:57792028..57792889hg38UCSC Ensembl
Outerchr4:57792000..57792917hg38UCSC Ensembl
chr4:58658180..58659069hg19UCSC Ensembl
Innerchr4:58658194..58659055hg19UCSC Ensembl
Outerchr4:58658166..58659083hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38890
hg19890
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600608
Supporting Variants
SamplesNA18633
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11443837
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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