A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6098594



Internal ID9060080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:31028927..31035219hg38UCSC Ensembl
Outerchr2:31028770..31035372hg38UCSC Ensembl
Innerchr2:31251793..31258085hg19UCSC Ensembl
Outerchr2:31251636..31258238hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg386603
hg196603
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2674441
Supporting Variants
SamplesHG00705
Known GenesGALNT14
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6098594
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer