A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664530



Internal ID9930635
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6371957, essv6181743
SamplesHG01462, NA19472
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664530
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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