A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9889404



Internal ID862338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23409667..23411287hg38UCSC Ensembl
Innerchr1:23409667..23411287hg38UCSC Ensembl
Outerchr1:23409244..23411686hg38UCSC Ensembl
chr1:23736160..23737780hg19UCSC Ensembl
Innerchr1:23736160..23737780hg19UCSC Ensembl
Outerchr1:23735737..23738179hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381621
hg191621
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585482
Supporting Variants
SamplesHG00451
Known GenesTCEA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9889404
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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