A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585231



Internal ID6972755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12105743..12108610hg38UCSC Ensembl
Innerchr1:12105810..12108543hg38UCSC Ensembl
Outerchr1:12105676..12108677hg38UCSC Ensembl
chr1:12165800..12168667hg19UCSC Ensembl
Innerchr1:12165867..12168600hg19UCSC Ensembl
Outerchr1:12165733..12168734hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg382868
hg192868
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9855978
SamplesHG00136
Known GenesTNFRSF8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585231
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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