A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665693



Internal ID9931798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:68308468..68310887hg38UCSC Ensembl
chr10:70068225..70070644hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg382420
hg192420
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv150e199
Supporting Variantsessv5824412, essv5507834, essv5443410, essv5817492, essv6072324, essv5534867, essv5647636, essv6416318, essv5677090, essv6480938, essv5492847, essv5810328, essv5906144, essv6587414, essv6036297, essv6558859, essv6512859, essv5633166, essv5587189, essv6328576, essv5513988, essv5604159, essv5764105, essv5867486, essv6464629, essv5547039
SamplesNA18592, NA18561, NA18550, NA18567, NA18618, NA18582, NA18571, NA18557, NA18614, NA18613, NA18538, NA18637, NA18579, NA18630, NA18548, NA18573, NA18593, NA18632, NA18542, NA18543, NA18559, NA18564, NA18610, NA18631, NA18623, NA18620
Known GenesPBLD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665693
Frequency
Sample Size1151
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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