A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10189868



Internal ID957558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174833780..174850014hg38UCSC Ensembl
Innerchr1:174833830..174849964hg38UCSC Ensembl
Outerchr1:174833730..174850064hg38UCSC Ensembl
chr1:174802918..174819152hg19UCSC Ensembl
Innerchr1:174802968..174819102hg19UCSC Ensembl
Outerchr1:174802868..174819202hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3816235
hg1916235
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587969
Supporting Variants
SamplesHG00589
Known GenesRABGAP1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10189868
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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