A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585230



Internal ID6972754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12071594..12073990hg38UCSC Ensembl
Innerchr1:12071663..12073921hg38UCSC Ensembl
Outerchr1:12071525..12074059hg38UCSC Ensembl
chr1:12131651..12134047hg19UCSC Ensembl
Innerchr1:12131720..12133978hg19UCSC Ensembl
Outerchr1:12131582..12134116hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg382397
hg192397
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9855977
SamplesHG00282
Known GenesTNFRSF8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585230
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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