A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673164



Internal ID9592583
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6124964, essv6367691, essv6062195, essv6589929, essv6385454, essv6246602, essv6395264, essv6567173, essv5803344, essv5454868, essv5501048, essv6313962, essv5934204, essv6140721
SamplesNA19397, NA19466, NA19332, NA20346, NA19373, NA19448, NA19235, NA19901, NA19707, NA19236, HG01204, NA19444, NA19328, NA19468
Known GenesRAB4A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673164
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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