A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11741617



Internal ID2797835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:185754173..185760961hg38UCSC Ensembl
Innerchr4:185754173..185760961hg38UCSC Ensembl
Outerchr4:185753673..185761461hg38UCSC Ensembl
chr4:186675327..186682115hg19UCSC Ensembl
Innerchr4:186675327..186682115hg19UCSC Ensembl
Outerchr4:186674827..186682615hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg386789
hg196789
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603513
Supporting Variants
SamplesHG02471
Known GenesSORBS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11741617
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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