A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6470765



Internal ID8991696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:174833871..174850073hg38UCSC Ensembl
Outerchr1:174833834..174850123hg38UCSC Ensembl
Innerchr1:174803009..174819211hg19UCSC Ensembl
Outerchr1:174802972..174819261hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3816290
hg1916290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2659714
Supporting Variants
SamplesHG00589
Known GenesRABGAP1L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6470765
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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