A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11493577



Internal ID5657806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70049031..70050780hg38UCSC Ensembl
Innerchr4:70049081..70050730hg38UCSC Ensembl
Outerchr4:70048953..70050858hg38UCSC Ensembl
chr4:70914748..70916497hg19UCSC Ensembl
Innerchr4:70914798..70916447hg19UCSC Ensembl
Outerchr4:70914670..70916575hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg381750
hg191750
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600928
Supporting Variants
SamplesNA19070
Known GenesHTN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11493577
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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