A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666327



Internal ID4710661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14087597..14087789hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv5824401, essv6083243, essv5849923, essv5638666, essv5829894, essv5784496, essv5405396, essv6084925, essv6064508, essv6561904, essv6272120, essv5976243, essv5561728, essv6569282, essv6080066, essv5686908, essv5922968, essv6339133, essv6574441, essv5951760, essv5796633, essv5756721, essv5680613, essv5776212, essv5720167
SamplesNA19819, NA18501, NA20296, NA19359, HG01082, NA18489, NA19379, NA18505, NA18873, NA19147, NA19438, NA20340, NA18912, NA18934, HG01183, NA20127, NA18916, NA19190, NA20348, NA19901, NA19720, NA19382, NA18940, NA19376, NA20276
Known GenesGRIN2B
Method
Analysis
Platform
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666327
Frequency
Sample Size1151
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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