A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6303238



Internal ID9792669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:217809202..217809505hg38UCSC Ensembl
Outerchr2:217809148..217809555hg38UCSC Ensembl
Innerchr2:218673925..218674228hg19UCSC Ensembl
Outerchr2:218673871..218674278hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38408
hg19408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2664314
Supporting Variants
SamplesNA19786
Known GenesTNS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6303238
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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