A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660804



Internal ID9580223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:64381398..64626873hg38UCSC Ensembl
Outerchr1:64381364..64626908hg38UCSC Ensembl
Innerchr1:64847081..65092556hg19UCSC Ensembl
Outerchr1:64847047..65092591hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38245545
hg19245545
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5756709
SamplesHG00704
Known GenesCACHD1, MIR4794
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660804
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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