A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673445



Internal ID9592864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54548370..54549775hg38UCSC Ensembl
Outerchr1:54548333..54549825hg38UCSC Ensembl
Innerchr1:55014043..55015448hg19UCSC Ensembl
Outerchr1:55014006..55015498hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381493
hg191493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6000794
SamplesNA18988
Known GenesACOT11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673445
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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