A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv317e214



Internal ID22756211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132565800..132600135hg38UCSC Ensembl
chr12:133142386..133176721hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3834336
hg1934336
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3631300, esv3631302
SamplesHG01918, NA19703, NA19066, HG01140, NA19068, HG02301, HG01133, NA19056, HG00275, HG02508, HG01049, NA19000, HG01680, HG00099, NA12272, HG02238, HG00342, HG02013, HG00234
Known GenesFBRSL1, MIR6763
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv317e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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