A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672400



Internal ID9938505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124240901..124242163hg38UCSC Ensembl
chr12:124725447..124726709hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381263
hg191263
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6269242, essv6496213, essv5480606, essv6491031, essv6096997, essv6083406, essv6278375, essv6334497, essv6012825, essv6487958, essv5541865, essv5850872, essv5585496, essv5898947, essv5601231, essv6267055, essv5707712, essv6249848, essv6271743, essv6441003, essv6481241, essv6326475, essv6119911, essv6161632, essv6239943, essv5708802
SamplesNA19190, NA18870, NA11918, NA18582, NA20291, NA18868, NA20340, NA19238, NA20342, NA11831, NA19462, NA19114, NA18499, NA18856, NA19099, NA18953, NA19440, NA19834, NA19376, NA18501, NA19093, NA19116, NA19900, NA19430, NA18505, NA19346
Known GenesZNF664-FAM101A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672400
Frequency
Sample Size1151
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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