A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10189871



Internal ID957559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174835245..174850119hg38UCSC Ensembl
chr1:174804383..174819257hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3814875
hg1914875
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587970
Supporting Variants
SamplesHG00589
Known GenesRABGAP1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10189871
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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