A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5996909



Internal ID9692846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:118939575..118940996hg38UCSC Ensembl
chr1:119482198..119483619hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg381422
hg191422
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2675423
Supporting Variants
SamplesNA19443
Known GenesTBX15
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5996909
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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