A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11302655



Internal ID1601317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196029592..196034615hg38UCSC Ensembl
Innerchr3:196029642..196034565hg38UCSC Ensembl
Outerchr3:196029521..196034686hg38UCSC Ensembl
chr3:195756463..195761486hg19UCSC Ensembl
Innerchr3:195756513..195761436hg19UCSC Ensembl
Outerchr3:195756392..195761557hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg385024
hg195024
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599262
Supporting Variants
SamplesHG01488
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11302655
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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