A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6294131



Internal ID9271534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121844957..121845474hg38UCSC Ensembl
chr12:122282863..122283380hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38518
hg19518
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2668773
Supporting Variants
SamplesNA19384
Known GenesHPD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6294131
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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