A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587969



Internal ID6975393
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv61e214
Supporting Variantsessv10189868, essv10189870, essv10189869
SamplesHG00589, HG02152, HG00623
Known GenesRABGAP1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587969
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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