A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672629



Internal ID9592048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:11855872..11856638hg38UCSC Ensembl
Outerchr18:11855803..11856708hg38UCSC Ensembl
Innerchr18:11855871..11856637hg19UCSC Ensembl
Outerchr18:11855802..11856707hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38906
hg19906
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5409346, essv5525912, essv6119209, essv5720157, essv6229872, essv6491243, essv5868629, essv5524716, essv6006536, essv6562441, essv6558065, essv5897928, essv5682901, essv5458242, essv6387115
SamplesNA19312, NA19317, NA19834, NA19474, NA19428, NA19471, NA19396, NA19397, NA19440, NA19908, HG01187, NA19703, NA18867, NA19346, NA19456
Known GenesGNAL
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672629
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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