A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14629854



Internal ID2625514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128739876..128782984hg38UCSC Ensembl
Innerchr12:128740026..128782834hg38UCSC Ensembl
Outerchr12:128739726..128783134hg38UCSC Ensembl
chr12:129224421..129267529hg19UCSC Ensembl
Innerchr12:129224571..129267379hg19UCSC Ensembl
Outerchr12:129224271..129267679hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3843109
hg1943109
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631147
Supporting Variants
SamplesHG02322
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14629854
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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