A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672088



Internal ID9591507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:54008432..54019538hg38UCSC Ensembl
Outerchr12:54008061..54019908hg38UCSC Ensembl
Innerchr12:54402216..54413322hg19UCSC Ensembl
Outerchr12:54401845..54413692hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3811848
hg1911848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5463867, essv5427814, essv6480926, essv6299671, essv6475652, essv6552828, essv5706784, essv5904251, essv6226370, essv6516115, essv5515533, essv6180844, essv6152553, essv6550340, essv5884469, essv6451496, essv6352320, essv6325027, essv5658264, essv6418861, essv5539920, essv5575345, essv6542169, essv6098173, essv5412559, essv6260877, essv5483730, essv5488048, essv6327296, essv6224736, essv5533972, essv6313263, essv5448936, essv5501886, essv5917460, essv6420967, essv5704770, essv6068230, essv5824571, essv5890315, essv6505305, essv5665644, essv6252943, essv5414600, essv5853352, essv5488441, essv6563640
SamplesHG00323, HG00309, HG00313, HG00182, HG00344, HG00328, HG00369, HG00274, HG00186, HG00310, HG00368, HG00326, HG00280, HG00366, HG00331, HG00269, HG00342, HG00321, HG00339, HG00346, HG00179, HG00337, HG00315, HG00338, HG00178, HG00276, HG00284, HG00357, HG00343, HG00306, HG00373, HG00325, HG00185, HG00273, HG00282, HG00277, HG00329, HG00377, HG00181, HG00285, HG00367, HG00320, HG00324, HG00336, HG00272, HG00271, HG00361
Known GenesHOXC4, HOXC5, HOXC6, HOXC8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672088
Frequency
Sample Size1151
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer