A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14629419



Internal ID6703362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:127802429..127883301hg38UCSC Ensembl
chr12:128286974..128367846hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3880873
hg1980873
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631124
Supporting Variants
SamplesNA20828
Known GenesFLJ37505
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14629419
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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