A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11730314



Internal ID6011386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:181384918..181391217hg38UCSC Ensembl
Innerchr4:181384918..181391217hg38UCSC Ensembl
Outerchr4:181384418..181391717hg38UCSC Ensembl
chr4:182306071..182312370hg19UCSC Ensembl
Innerchr4:182306071..182312370hg19UCSC Ensembl
Outerchr4:182305571..182312870hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg386300
hg196300
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603408
Supporting Variants
SamplesNA19428
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11730314
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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