A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9925766



Internal ID5931832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45404558..45405534hg38UCSC Ensembl
Innerchr1:45404564..45405528hg38UCSC Ensembl
Outerchr1:45404552..45405540hg38UCSC Ensembl
chr1:45870230..45871206hg19UCSC Ensembl
Innerchr1:45870236..45871200hg19UCSC Ensembl
Outerchr1:45870224..45871212hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38977
hg19977
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585907
Supporting Variants
SamplesNA19346
Known GenesTESK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9925766
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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