A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11001169



Internal ID1002985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47449179..47451954hg38UCSC Ensembl
Innerchr3:47449179..47451954hg38UCSC Ensembl
Outerchr3:47449179..47451954hg38UCSC Ensembl
chr3:47490669..47493444hg19UCSC Ensembl
Innerchr3:47490669..47493444hg19UCSC Ensembl
Outerchr3:47490669..47493444hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382776
hg192776
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596080
Supporting Variants
SamplesHG00534
Known GenesSCAP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11001169
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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