A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665625



Internal ID9585044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:70839253..70843001hg38UCSC Ensembl
chr10:72599010..72602758hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg383749
hg193749
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6442513, essv6329736
SamplesHG01492, NA12778
Known GenesSGPL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665625
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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