A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10188432



Internal ID190248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:172420024..172426974hg38UCSC Ensembl
Innerchr1:172420071..172426928hg38UCSC Ensembl
Outerchr1:172419978..172427021hg38UCSC Ensembl
chr1:172389164..172396114hg19UCSC Ensembl
Innerchr1:172389211..172396068hg19UCSC Ensembl
Outerchr1:172389118..172396161hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg386951
hg196951
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587924
Supporting Variants
SamplesNA18615
Known GenesC1orf105
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10188432
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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