A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14391609



Internal ID6108832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13899395..13899888hg38UCSC Ensembl
Innerchr12:13899396..13899887hg38UCSC Ensembl
Outerchr12:13899394..13899889hg38UCSC Ensembl
chr12:14052329..14052822hg19UCSC Ensembl
Innerchr12:14052330..14052821hg19UCSC Ensembl
Outerchr12:14052328..14052823hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38494
hg19494
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628638
Supporting Variants
SamplesNA19649
Known GenesGRIN2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14391609
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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