A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5678846



Internal ID8656249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71492784..71495873hg38UCSC Ensembl
chr12:71886564..71889653hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg383090
hg193090
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2670534
Supporting Variants
SamplesNA19917
Known GenesLGR5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5678846
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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