A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11257565



Internal ID642948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184585617..184587518hg38UCSC Ensembl
Innerchr3:184585617..184587518hg38UCSC Ensembl
Outerchr3:184585477..184587716hg38UCSC Ensembl
chr3:184303405..184305306hg19UCSC Ensembl
Innerchr3:184303405..184305306hg19UCSC Ensembl
Outerchr3:184303265..184305504hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg381902
hg191902
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598952
Supporting Variants
SamplesHG00281
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11257565
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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