A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587964



Internal ID6975387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174589925..174610729hg38UCSC Ensembl
Innerchr1:174589925..174610729hg38UCSC Ensembl
Outerchr1:174589425..174611229hg38UCSC Ensembl
chr1:174559063..174579867hg19UCSC Ensembl
Innerchr1:174559063..174579867hg19UCSC Ensembl
Outerchr1:174558563..174580367hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3820805
hg1920805
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10189267
SamplesHG03713
Known GenesRABGAP1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587964
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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