A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5472930



Internal ID8450333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:46260987..46262232hg38UCSC Ensembl
Outerchr6:46260830..46262385hg38UCSC Ensembl
Innerchr6:46228724..46229969hg19UCSC Ensembl
Outerchr6:46228567..46230122hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg381556
hg191556
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2659487
Supporting Variants
SamplesNA19469
Known GenesRCAN2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5472930
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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