A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11381296



Internal ID5376154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:29527345..29537090hg38UCSC Ensembl
Innerchr4:29527345..29537090hg38UCSC Ensembl
Outerchr4:29526845..29537590hg38UCSC Ensembl
chr4:29528967..29538712hg19UCSC Ensembl
Innerchr4:29528967..29538712hg19UCSC Ensembl
Outerchr4:29528467..29539212hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg389746
hg199746
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600050
Supporting Variants
SamplesNA18917
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11381296
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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