A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628712



Internal ID7015536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:17436272..17448386hg38UCSC Ensembl
Innerchr12:17436299..17448359hg38UCSC Ensembl
Outerchr12:17436245..17448413hg38UCSC Ensembl
chr12:17589206..17601320hg19UCSC Ensembl
Innerchr12:17589233..17601293hg19UCSC Ensembl
Outerchr12:17589179..17601347hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3812115
hg1912115
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14399922, essv14399907, essv14399897, essv14399898, essv14399930, essv14399914, essv14399921, essv14399924, essv14399918, essv14399909, essv14399903, essv14399919, essv14399926, essv14399899, essv14399908, essv14399910, essv14399911, essv14399929, essv14399917, essv14399912, essv14399906, essv14399900, essv14399915, essv14399925, essv14399928, essv14399927, essv14399901, essv14399902, essv14399916, essv14399913, essv14399904, essv14399905, essv14399920, essv14399923
SamplesHG01462, HG03175, NA19704, NA18877, NA18504, HG03193, HG03172, HG03168, HG02952, NA19649, HG03342, HG02981, HG01080, HG03268, NA19238, HG02502, NA19025, HG02820, NA19984, HG03159, HG02968, HG03388, NA19338, HG02979, HG02557, HG01272, NA19143, HG03157, NA19351, HG02107, NA19185, HG02052, NA19755, HG03271
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628712
Frequency
Sample Size2504
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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