A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6181743



Internal ID9188070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55523699..55530948hg38UCSC Ensembl
chr12:55917483..55924732hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg387250
hg197250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664530
Supporting Variants
SamplesHG01462
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6181743
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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