A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7863928



Internal ID13894209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:80577689..80577700hg38UCSC Ensembl
Innerchr2:80577691..80577698hg38UCSC Ensembl
Outerchr2:80577687..80577702hg38UCSC Ensembl
chr2:80804814..80804825hg19UCSC Ensembl
Innerchr2:80804816..80804823hg19UCSC Ensembl
Outerchr2:80804812..80804827hg19UCSC Ensembl
chr2:80658325..80658336hg18UCSC Ensembl
Innerchr2:80658327..80658334hg18UCSC Ensembl
Outerchr2:80658323..80658338hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3359648
Supporting Variants
SamplesNA18520
Known GenesCTNNA2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7863928
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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