A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5770581



Internal ID8747984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56481732..56481955hg38UCSC Ensembl
Outerchr12:56481575..56482108hg38UCSC Ensembl
Innerchr12:56875516..56875739hg19UCSC Ensembl
Outerchr12:56875359..56875892hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38534
hg19534
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2677984
Supporting Variants
SamplesNA19901
Known GenesGLS2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5770581
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