A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628912



Internal ID6669052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:25952432..25953533hg38UCSC Ensembl
Innerchr12:25952489..25953476hg38UCSC Ensembl
Outerchr12:25952375..25953590hg38UCSC Ensembl
chr12:26105365..26106466hg19UCSC Ensembl
Innerchr12:26105422..26106409hg19UCSC Ensembl
Outerchr12:26105308..26106523hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg381102
hg191102
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14416702, essv14416691, essv14416685, essv14416698, essv14416683, essv14416684, essv14416686, essv14416689, essv14416687, essv14416688, essv14416706, essv14416707, essv14416700, essv14416690, essv14416709, essv14416692, essv14416697, essv14416699, essv14416711, essv14416696, essv14416693, essv14416705, essv14416701, essv14416710, essv14416703, essv14416682, essv14416704, essv14416694, essv14416708, essv14416695
SamplesNA19378, NA19704, NA19350, HG01305, HG03199, NA19171, HG03091, NA19904, HG02111, HG02573, NA19385, NA19901, HG02623, NA19025, NA19462, HG03547, NA19913, NA19982, HG02887, HG03024, HG02594, HG03240, NA19147, NA19454, NA19435, HG02611, NA19376, HG03049, NA19713, HG03077
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628912
Frequency
Sample Size2504
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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