A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3324614



Internal ID14824895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:80634524..80634536hg38UCSC Ensembl
Innerchr2:80634518..80634540hg38UCSC Ensembl
Outerchr2:80634506..80634552hg38UCSC Ensembl
chr2:80861649..80861661hg19UCSC Ensembl
Innerchr2:80861643..80861665hg19UCSC Ensembl
Outerchr2:80861631..80861677hg19UCSC Ensembl
chr2:80715160..80715172hg18UCSC Ensembl
Innerchr2:80715176..80715154hg18UCSC Ensembl
Outerchr2:80715142..80715188hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38204
hg19204
hg18204
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8907345, essv8907352, essv8907343, essv8907339, essv8907348, essv8907353, essv8907344, essv8907342, essv8907340, essv8907341, essv8907351, essv8907346, essv8907350, essv8907349
SamplesNA18951, NA18561, NA18573, NA18505, NA19147, NA18949, NA11894, NA18973, NA18593, NA18498, NA19005, NA18942, NA18552, NA18944
Known GenesCTNNA2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3324614
Frequency
Sample Size185
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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