A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667114



Internal ID9933219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56470194..56470917hg38UCSC Ensembl
chr12:56863978..56864701hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38724
hg19724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5754435, essv5695372, essv6573082, essv5686375, essv6322559, essv6417722, essv5529115
SamplesHG01441, HG00693, NA18964, NA19064, NA19625, HG00343, NA19676
Known GenesSPRYD4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667114
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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