A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587960



Internal ID6975383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174386162..174442023hg38UCSC Ensembl
chr1:174355300..174411161hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3855862
hg1955862
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10189128
SamplesHG01973
Known GenesRABGAP1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587960
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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