A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14361830



Internal ID3823538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9126204..9127582hg38UCSC Ensembl
Innerchr12:9126244..9127543hg38UCSC Ensembl
Outerchr12:9126165..9127622hg38UCSC Ensembl
chr12:9278800..9280178hg19UCSC Ensembl
Innerchr12:9278840..9280139hg19UCSC Ensembl
Outerchr12:9278761..9280218hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381379
hg191379
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628493
Supporting Variants
SamplesHG03461
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14361830
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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