A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6450189



Internal ID9731883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:183124840..183125377hg38UCSC Ensembl
Outerchr2:183124803..183125427hg38UCSC Ensembl
Innerchr2:183989568..183990105hg19UCSC Ensembl
Outerchr2:183989531..183990155hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38625
hg19625
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2668397
Supporting Variants
SamplesNA19657
Known GenesNUP35
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6450189
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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