A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657931



Internal ID9577350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:165730006..165943653hg38UCSC Ensembl
Outerchr3:165729972..165943688hg38UCSC Ensembl
Innerchr3:165447794..165661441hg19UCSC Ensembl
Outerchr3:165447760..165661476hg19UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg38213717
hg19213717
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6115433
SamplesHG00258
Known GenesBCHE
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657931
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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