A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10381892



Internal ID383708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248694761..248743533hg38UCSC Ensembl
Innerchr1:248694778..248743517hg38UCSC Ensembl
Outerchr1:248694745..248743550hg38UCSC Ensembl
chr1:248858062..248906834hg19UCSC Ensembl
Innerchr1:248858079..248906818hg19UCSC Ensembl
Outerchr1:248858046..248906851hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3848773
hg1948773
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589566
Supporting Variants
SamplesHG00619
Known GenesLYPD8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10381892
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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