A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628995



Internal ID7015817
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14423955, essv14423958, essv14423956, essv14423957
SamplesHG03237, HG04002, HG01781, HG02778
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628995
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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