A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678549



Internal ID9944654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53483696..53484001hg38UCSC Ensembl
Outerchr1:53483659..53484051hg38UCSC Ensembl
Innerchr1:53949369..53949674hg19UCSC Ensembl
Outerchr1:53949332..53949724hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38393
hg19393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6594512, essv5938650
SamplesHG00737, NA19681
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678549
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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