A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671844



Internal ID9937949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25767656..25767991hg38UCSC Ensembl
Outerchr1:25767611..25768058hg38UCSC Ensembl
Innerchr1:26094147..26094482hg19UCSC Ensembl
Outerchr1:26094102..26094549hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38448
hg19448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6169379, essv6052212, essv6451449, essv6438205, essv6419141, essv5748706, essv5899214, essv5900991, essv5507160, essv5823134, essv6501573, essv6128223, essv5931704, essv6152211, essv6001839, essv6514627, essv6336565, essv5534911, essv5578674, essv6104479, essv6152273, essv6511818, essv6039679, essv5509131, essv6580691, essv5597764, essv6199445, essv5766028, essv6488467, essv6500767, essv5663711, essv6463989, essv6022301, essv5971021, essv5809589, essv5944376, essv5549242, essv5923415, essv6305917, essv6542553, essv5600099, essv6302272, essv5949810, essv6356210, essv6244162, essv5662503
SamplesNA19397, HG00242, HG01389, NA20294, NA19355, NA18606, HG01518, NA18870, NA20356, NA19373, HG01366, NA18618, HG01134, HG01519, NA19385, HG00182, NA20757, NA20755, HG01353, HG00149, NA19082, NA19717, NA20344, HG00708, NA19084, HG00690, NA20581, NA19750, NA19452, NA18963, HG00704, NA19756, HG01148, NA19729, HG00265, HG00366, NA19072, NA12272, NA19331, NA19010, NA20778, HG01137, NA19783, NA18615, HG01112, NA19431
Known GenesMAN1C1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671844
Frequency
Sample Size1151
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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