A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663530



Internal ID9582949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31570462..31571187hg38UCSC Ensembl
chr12:31723396..31724121hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38726
hg19726
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5860701, essv6540906, essv6100680, essv5786749
SamplesNA20346, NA19338, NA19700, NA19711
Known GenesDENND5B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663530
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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