A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666327



Internal ID2899414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13934663..13934855hg38UCSC Ensembl
chr12:14087597..14087789hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38193
hg19193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
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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