A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628493



Internal ID7015317
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14361830
SamplesHG03461
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628493
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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