A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14624782



Internal ID5579834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:126235119..126240994hg38UCSC Ensembl
Innerchr12:126235146..126240967hg38UCSC Ensembl
Outerchr12:126235092..126241021hg38UCSC Ensembl
chr12:126719665..126725540hg19UCSC Ensembl
Innerchr12:126719692..126725513hg19UCSC Ensembl
Outerchr12:126719638..126725567hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg385876
hg195876
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631057
Supporting Variants
SamplesNA19024
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14624782
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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