A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11493565



Internal ID1495381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:69859139..69860809hg38UCSC Ensembl
Innerchr4:69859195..69860753hg38UCSC Ensembl
Outerchr4:69859083..69860865hg38UCSC Ensembl
chr4:70724857..70726527hg19UCSC Ensembl
Innerchr4:70724913..70726471hg19UCSC Ensembl
Outerchr4:70724801..70726583hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg381671
hg191671
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600924
Supporting Variants
SamplesNA18625
Known GenesSULT1E1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11493565
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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