A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598208



Internal ID6985344
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11187724, essv11187722, essv11187723
SamplesHG03469, HG00381, NA18984
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598208
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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