A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11187724



Internal ID5498423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:152478799..152482262hg38UCSC Ensembl
Innerchr3:152478826..152482236hg38UCSC Ensembl
Outerchr3:152478773..152482289hg38UCSC Ensembl
chr3:152196588..152200051hg19UCSC Ensembl
Innerchr3:152196615..152200025hg19UCSC Ensembl
Outerchr3:152196562..152200078hg19UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg383464
hg193464
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598208
Supporting Variants
SamplesNA18984
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11187724
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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