A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666114



Internal ID2899201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:148178145..148180469hg38UCSC Ensembl
chr4:149099296..149101620hg19UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg382325
hg192325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6059195, essv6559483, essv6222101, essv6020227, essv5690393, essv6553563, essv5858411, essv6007619, essv5966085, essv6425481, essv5524992, essv6381289, essv6532784, essv5896284, essv5585910, essv5732419, essv5937402, essv5850681, essv6186070, essv6328594, essv6492739
SamplesHG00309, HG00182, HG00100, HG00186, HG00261, NA20802, HG00190, HG00111, HG00253, HG00244, HG00321, HG01375, HG00231, HG00372, HG00315, NA12275, HG01170, NA20756, HG00118, HG00285, HG00327
Known GenesNR3C2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666114
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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