A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv61e214



Internal ID22755955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174833780..174850119hg38UCSC Ensembl
chr1:174802918..174819257hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3816340
hg1916340
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3587970, esv3587969
SamplesHG00589, HG02152, HG00623
Known GenesRABGAP1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv61e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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