A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14423955



Internal ID1892943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29827662..29838431hg38UCSC Ensembl
chr12:29980595..29991364hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3810770
hg1910770
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628995
Supporting Variants
SamplesHG01781
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14423955
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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