A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3424314



Internal ID15271271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68687137..68687137hg38UCSC Ensembl
Innerchr2:68687136..68687138hg38UCSC Ensembl
Outerchr2:68687087..68687187hg38UCSC Ensembl
chr2:68914269..68914269hg19UCSC Ensembl
Innerchr2:68914268..68914270hg19UCSC Ensembl
Outerchr2:68914219..68914319hg19UCSC Ensembl
chr2:68767773..68767773hg18UCSC Ensembl
Innerchr2:68767774..68767772hg18UCSC Ensembl
Outerchr2:68767723..68767823hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38207
hg19207
hg18207
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741066
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3424314
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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