A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6231904



Internal ID9288358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44468296..44468969hg38UCSC Ensembl
chr13:45042432..45043105hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38674
hg19674
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2677067
Supporting Variants
SamplesNA12777
Known GenesTSC22D1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6231904
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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