A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11306469



Internal ID6608758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196222344..196224428hg38UCSC Ensembl
Innerchr3:196222344..196224428hg38UCSC Ensembl
Outerchr3:196222016..196224668hg38UCSC Ensembl
chr3:195949215..195951299hg19UCSC Ensembl
Innerchr3:195949215..195951299hg19UCSC Ensembl
Outerchr3:195948887..195951539hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg382085
hg192085
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599275
Supporting Variants
SamplesNA20774
Known GenesSLC51A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11306469
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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