A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656577



Internal ID9575996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248694788..248743549hg38UCSC Ensembl
chr1:248858089..248906850hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3848762
hg1948762
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6018459
SamplesHG00619
Known GenesLYPD8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656577
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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