A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10187998



Internal ID189814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:171038804..171043620hg38UCSC Ensembl
Innerchr1:171038832..171043593hg38UCSC Ensembl
Outerchr1:171038777..171043648hg38UCSC Ensembl
chr1:171007945..171012761hg19UCSC Ensembl
Innerchr1:171007973..171012734hg19UCSC Ensembl
Outerchr1:171007918..171012789hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg384817
hg194817
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587911
Supporting Variants
SamplesHG03091
Known GenesMROH9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10187998
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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