A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6539484



Internal ID9205372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51204227..51204366hg38UCSC Ensembl
Outerchr12:51204190..51204416hg38UCSC Ensembl
Innerchr12:51598010..51598149hg19UCSC Ensembl
Outerchr12:51597973..51598199hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2677962
Supporting Variants
SamplesNA06986
Known GenesPOU6F1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6539484
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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