A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656500



Internal ID9922605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9762347..9765620hg38UCSC Ensembl
Outerchr1:9762183..9765781hg38UCSC Ensembl
Innerchr1:9822405..9825678hg19UCSC Ensembl
Outerchr1:9822241..9825839hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg383599
hg193599
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6302894
SamplesHG00419
Known GenesCLSTN1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656500
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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