A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11257975



Internal ID5273461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185879295..185883268hg38UCSC Ensembl
Innerchr3:185879303..185883261hg38UCSC Ensembl
Outerchr3:185879288..185883276hg38UCSC Ensembl
chr3:185597083..185601056hg19UCSC Ensembl
Innerchr3:185597091..185601049hg19UCSC Ensembl
Outerchr3:185597076..185601064hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg383974
hg193974
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598978
Supporting Variants
SamplesNA18643
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11257975
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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