A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11004520



Internal ID1006336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48248250..48253371hg38UCSC Ensembl
Innerchr3:48248260..48253361hg38UCSC Ensembl
Outerchr3:48248240..48253381hg38UCSC Ensembl
chr3:48289740..48294861hg19UCSC Ensembl
Innerchr3:48289750..48294851hg19UCSC Ensembl
Outerchr3:48289730..48294871hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg385122
hg195122
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596103
Supporting Variants
SamplesNA19917
Known GenesZNF589
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11004520
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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