A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594892



Internal ID6635167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:239056..271185hg38UCSC Ensembl
Innerchr3:239080..271161hg38UCSC Ensembl
Outerchr3:239032..271209hg38UCSC Ensembl
chr3:280739..312868hg19UCSC Ensembl
Innerchr3:280763..312844hg19UCSC Ensembl
Outerchr3:280715..312892hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3832130
hg1932130
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10897465, essv10897466
SamplesHG02238, HG02769
Known GenesCHL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594892
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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