A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664042



Internal ID9583461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:184099582..184101425hg38UCSC Ensembl
Outerchr3:184099425..184101578hg38UCSC Ensembl
Innerchr3:183817370..183819213hg19UCSC Ensembl
Outerchr3:183817213..183819366hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg382154
hg192154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5412379, essv5570546, essv5503893, essv6578513, essv5695939, essv6327411
SamplesHG00608, NA18561, NA18563, NA18579, NA18543, HG00614
Known GenesHTR3E
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664042
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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