A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669727



Internal ID9589146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:92722421..92727493hg38UCSC Ensembl
Outerchr1:92722264..92727646hg38UCSC Ensembl
Innerchr1:93187978..93193050hg19UCSC Ensembl
Outerchr1:93187821..93193203hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg385383
hg195383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5547707, essv6005405
SamplesHG00577, NA18634
Known GenesEVI5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669727
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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