A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672109



Internal ID9938214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:95162577..95214762hg38UCSC Ensembl
chr1:95628133..95680318hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3852186
hg1952186
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5860884
SamplesHG01174
Known GenesTMEM56, TMEM56-RWDD3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672109
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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