A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631302



Internal ID7018111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132567057..132600135hg38UCSC Ensembl
chr12:133143643..133176721hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3833079
hg1933079
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv317e214
Supporting Variantsessv14649586, essv14649578, essv14649587, essv14649583, essv14649574, essv14649582, essv14649588, essv14649579, essv14649576, essv14649581, essv14649589, essv14649577, essv14649580, essv14649590, essv14649584, essv14649575, essv14649585, essv14649591
SamplesHG01918, NA19703, NA19066, HG01140, NA19068, HG02301, HG01133, NA19056, HG00275, HG02508, HG01049, NA19000, HG01680, HG00099, HG02238, HG00342, HG02013, HG00234
Known GenesFBRSL1, MIR6763
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631302
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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