A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303771



Internal ID14804033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237828872..237828873hg38UCSC Ensembl
Innerchr2:237828855..237828890hg38UCSC Ensembl
Outerchr2:237828854..237828891hg38UCSC Ensembl
chr2:238737515..238737516hg19UCSC Ensembl
Innerchr2:238737498..238737533hg19UCSC Ensembl
Outerchr2:238737497..238737534hg19UCSC Ensembl
chr2:238402254..238402255hg18UCSC Ensembl
Innerchr2:238402272..238402237hg18UCSC Ensembl
Outerchr2:238402236..238402273hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7811613, essv7787937, essv7781973, essv7773204, essv7803486, essv7819543, essv7809398
SamplesNA12249, NA18603, NA18949, NA11994, NA18960, NA07346, NA18564
Known GenesRBM44
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303771
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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