A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11357248



Internal ID1893570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:11920162..12029622hg38UCSC Ensembl
Innerchr4:11920162..12029622hg38UCSC Ensembl
Outerchr4:11919662..12030122hg38UCSC Ensembl
chr4:11921786..12031246hg19UCSC Ensembl
Innerchr4:11921786..12031246hg19UCSC Ensembl
Outerchr4:11921286..12031746hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg38109461
hg19109461
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599664
Supporting Variants
SamplesHG01781
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11357248
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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