A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597302



Internal ID6972236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:107130511..107146281hg38UCSC Ensembl
Innerchr3:107130511..107146281hg38UCSC Ensembl
Outerchr3:107130437..107146352hg38UCSC Ensembl
chr3:106849358..106865128hg19UCSC Ensembl
Innerchr3:106849358..106865128hg19UCSC Ensembl
Outerchr3:106849284..106865199hg19UCSC Ensembl
Cytoband3q13.12
Allele length
AssemblyAllele length
hg3815771
hg1915771
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11094681, essv11094682, essv11094683
SamplesHG00536, HG02470, NA18543
Known GenesLINC00882
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597302
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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