A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675425



Internal ID9594844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:146548190..146554647hg38UCSC Ensembl
Outerchr6:146548033..146554800hg38UCSC Ensembl
Innerchr6:146869326..146875783hg19UCSC Ensembl
Outerchr6:146869169..146875936hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg386768
hg196768
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6487362
SamplesHG00242
Known GenesRAB32
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675425
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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