A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8643673



Internal ID14794313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26851337..26851337hg38UCSC Ensembl
Innerchr2:26851336..26851338hg38UCSC Ensembl
Outerchr2:26851297..26851357hg38UCSC Ensembl
chr2:27074205..27074205hg19UCSC Ensembl
Innerchr2:27074204..27074206hg19UCSC Ensembl
Outerchr2:27074165..27074225hg19UCSC Ensembl
chr2:26927709..26927709hg18UCSC Ensembl
Innerchr2:26927710..26927708hg18UCSC Ensembl
Outerchr2:26927669..26927729hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38198
hg19198
hg18198
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3416312
Supporting Variants
Samples
Known GenesDPYSL5
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8643673
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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