A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658636



Internal ID9578055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99400238..99408044hg38UCSC Ensembl
Outerchr12:99399867..99408464hg38UCSC Ensembl
Innerchr12:99794016..99801822hg19UCSC Ensembl
Outerchr12:99793645..99802242hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg388598
hg198598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv306e199
Supporting Variantsessv6347292, essv5846367, essv5510986, essv6100380, essv5797528, essv5575144, essv6064792, essv6059605, essv6304593, essv6506663, essv6581175, essv5814534, essv5722752, essv5595908, essv5409806, essv5581132, essv5955067, essv5893993, essv5513955, essv6356314, essv6204077, essv6048138, essv5735553, essv5669073, essv5542239, essv6365024, essv6220872, essv6508087, essv6345325, essv6278721, essv6353723, essv5570852, essv5940902, essv5443435, essv6521222, essv6146406, essv6083007, essv5811420, essv5968860, essv5752977, essv5632656, essv6372447, essv5915888, essv5600643, essv6098426
SamplesNA19394, NA19332, HG01389, HG01374, NA19355, HG01456, NA19443, NA19446, NA19396, NA19379, NA19315, HG01351, HG01354, NA19404, HG01134, HG01455, NA19372, NA19371, NA19471, HG01440, NA19445, NA19437, HG01360, NA19462, NA19347, HG01498, NA19461, NA19452, NA19321, NA19473, HG01551, HG01253, HG01375, NA19334, NA19470, NA19428, NA19324, NA19311, NA19467, HG01489, HG01342, NA19376, NA19474, HG01125, NA19431
Known GenesANKS1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658636
Frequency
Sample Size1151
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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