A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659412



Internal ID9578831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:81916649..81920677hg38UCSC Ensembl
Outerchr1:81916612..81920727hg38UCSC Ensembl
Innerchr1:82382333..82386361hg19UCSC Ensembl
Outerchr1:82382296..82386411hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg384116
hg194116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6027008
SamplesNA19347
Known GenesLPHN2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659412
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