A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11190013



Internal ID6074464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:153747233..153752400hg38UCSC Ensembl
Innerchr3:153747233..153752400hg38UCSC Ensembl
Outerchr3:153746737..153752765hg38UCSC Ensembl
chr3:153465022..153470189hg19UCSC Ensembl
Innerchr3:153465022..153470189hg19UCSC Ensembl
Outerchr3:153464526..153470554hg19UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg385168
hg195168
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598236
Supporting Variants
SamplesNA19462
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11190013
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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