A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673204



Internal ID9939309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:53493789..53495595hg38UCSC Ensembl
Outerchr3:53493418..53495965hg38UCSC Ensembl
Innerchr3:53527816..53529622hg19UCSC Ensembl
Outerchr3:53527445..53529992hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg382548
hg192548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5748964, essv6277688, essv5540585, essv5998007, essv5695529, essv5884483, essv6597678, essv5496778, essv5755763, essv5511954, essv6230197, essv6503788, essv5529270, essv5983824, essv6409178, essv5496512, essv6348350, essv6193728, essv6323266, essv6560056, essv6432885, essv5722325, essv5843300, essv5740102, essv6457346, essv6508681, essv5630977, essv5563044, essv6113740, essv5535739, essv6518890, essv5957459, essv5935329, essv5758553, essv5446670, essv5906890, essv5606855, essv5533237, essv6247562, essv6373110, essv5431692, essv6572323
SamplesNA19664, NA19777, NA19684, NA19660, NA19762, NA19678, NA19723, NA19771, NA19782, NA19681, NA19720, NA19651, NA19719, NA19731, NA19722, NA19725, NA19657, NA19717, NA19663, NA19788, NA19776, NA19654, NA19774, NA19655, NA19750, NA19761, NA19682, NA19756, NA19675, NA19685, NA19652, NA19679, NA19783, NA19785, NA19779, NA19716, NA19770, NA19726, NA19780, NA19661, NA19755, NA19676
Known GenesCACNA1D
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673204
Frequency
Sample Size1151
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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