A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665869



Internal ID9585288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42112737..42113887hg38UCSC Ensembl
chr12:42506539..42507689hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381151
hg191151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6279327, essv6050613, essv6062814, essv5576615, essv5794692, essv6213692, essv6459197, essv6058216, essv6548349, essv5939100, essv5845870, essv6266707, essv5489818, essv6232137, essv5662894, essv6138953, essv6459924, essv6068458, essv5970328, essv5437790, essv6255065, essv6043717
SamplesNA19909, NA19092, NA19107, NA19382, NA19404, NA18868, NA19917, NA20340, NA19371, NA19235, NA19456, NA19451, NA19462, NA18933, NA19452, NA20296, NA19321, NA19470, NA18873, NA19316, NA19429, NA19431
Known GenesGXYLT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665869
Frequency
Sample Size1151
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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