A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5658375



Internal ID9723293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:134558721..134562029hg38UCSC Ensembl
Outerchr2:134558684..134562079hg38UCSC Ensembl
Innerchr2:135316292..135319600hg19UCSC Ensembl
Outerchr2:135316255..135319650hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg383396
hg193396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2674764
Supporting Variants
SamplesNA19474
Known GenesTMEM163
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5658375
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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