A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3346258



Internal ID14846525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237828874..237828890hg38UCSC Ensembl
Innerchr2:237828874..237828888hg38UCSC Ensembl
Outerchr2:237828860..237828904hg38UCSC Ensembl
chr2:238737517..238737533hg19UCSC Ensembl
Innerchr2:238737517..238737531hg19UCSC Ensembl
Outerchr2:238737503..238737547hg19UCSC Ensembl
chr2:238402256..238402272hg18UCSC Ensembl
Innerchr2:238402270..238402256hg18UCSC Ensembl
Outerchr2:238402242..238402286hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38236
hg19236
hg18236
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8911474, essv8911475, essv8911473, essv8911477, essv8911472, essv8911476, essv8911478
SamplesNA12249, NA18603, NA18949, NA11994, NA18960, NA07346, NA18564
Known GenesRBM44
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3346258
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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