A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659246



Internal ID9578665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:1188991..1190392hg38UCSC Ensembl
chr10:1234931..1236332hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg381402
hg191402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5689594, essv6148053, essv5871713, essv5988608, essv6117752, essv6207343, essv6405449
SamplesNA19401, NA19435, NA18868, NA19921, NA19116, NA19431, NA19350
Known GenesADARB2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659246
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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