A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6140721



Internal ID9118124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229275813..229278052hg38UCSC Ensembl
chr1:229411560..229413799hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg382240
hg192240
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2673164
Supporting Variants
SamplesNA19444
Known GenesRAB4A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6140721
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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