A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9916180



Internal ID6541473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39811141..39845795hg38UCSC Ensembl
Innerchr1:39811141..39845795hg38UCSC Ensembl
Outerchr1:39810641..39846295hg38UCSC Ensembl
chr1:40276813..40311467hg19UCSC Ensembl
Innerchr1:40276813..40311467hg19UCSC Ensembl
Outerchr1:40276313..40311967hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3834655
hg1934655
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585792
Supporting Variants
SamplesNA18626
Known GenesTRIT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9916180
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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