A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600928



Internal ID6987967
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11493577
SamplesNA19070
Known GenesHTN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600928
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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