A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595712



Internal ID6635986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:29313789..29315007hg38UCSC Ensembl
Innerchr3:29313839..29314957hg38UCSC Ensembl
Outerchr3:29313739..29315057hg38UCSC Ensembl
chr3:29355280..29356498hg19UCSC Ensembl
Innerchr3:29355330..29356448hg19UCSC Ensembl
Outerchr3:29355230..29356548hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg381219
hg191219
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10967992, essv10967993
SamplesHG03369, HG00265
Known GenesRBMS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595712
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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