A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9999371



Internal ID6624664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:84083514..84096273hg38UCSC Ensembl
Innerchr1:84084014..84095773hg38UCSC Ensembl
Outerchr1:84082514..84097273hg38UCSC Ensembl
chr1:84549197..84561956hg19UCSC Ensembl
Innerchr1:84549697..84561456hg19UCSC Ensembl
Outerchr1:84548197..84562956hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3812760
hg1912760
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586660
Supporting Variants
SamplesHG03246
Known GenesPRKACB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9999371
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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