A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11727968



Internal ID509887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:180446752..180448425hg38UCSC Ensembl
Innerchr4:180446774..180448403hg38UCSC Ensembl
Outerchr4:180446730..180448447hg38UCSC Ensembl
chr4:181367905..181369578hg19UCSC Ensembl
Innerchr4:181367927..181369556hg19UCSC Ensembl
Outerchr4:181367883..181369600hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg381674
hg191674
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603381
Supporting Variants
SamplesHG00182
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11727968
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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