A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3334888



Internal ID15181878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55755778..55755804hg38UCSC Ensembl
Innerchr12:55755737..55755845hg38UCSC Ensembl
Outerchr12:55755711..55755871hg38UCSC Ensembl
chr12:56149562..56149588hg19UCSC Ensembl
Innerchr12:56149521..56149629hg19UCSC Ensembl
Outerchr12:56149495..56149655hg19UCSC Ensembl
chr12:54435829..54435855hg18UCSC Ensembl
Innerchr12:54435896..54435788hg18UCSC Ensembl
Outerchr12:54435762..54435922hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865579
SamplesNA12005
Known GenesSARNP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3334888
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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