A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11387948



Internal ID4694519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:32069353..32072878hg38UCSC Ensembl
Innerchr4:32069353..32072878hg38UCSC Ensembl
Outerchr4:32069151..32072988hg38UCSC Ensembl
chr4:32070975..32074500hg19UCSC Ensembl
Innerchr4:32070975..32074500hg19UCSC Ensembl
Outerchr4:32070773..32074610hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg383526
hg193526
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600103
Supporting Variants
SamplesHG04214
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11387948
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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