A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629666



Internal ID6669805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:59708654..59710216hg38UCSC Ensembl
Innerchr12:59708656..59710215hg38UCSC Ensembl
Outerchr12:59708653..59710218hg38UCSC Ensembl
chr12:60102435..60103997hg19UCSC Ensembl
Innerchr12:60102437..60103996hg19UCSC Ensembl
Outerchr12:60102434..60103999hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg381563
hg191563
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14499302, essv14499297, essv14499287, essv14499305, essv14499303, essv14499310, essv14499266, essv14499282, essv14499273, essv14499300, essv14499293, essv14499268, essv14499315, essv14499270, essv14499274, essv14499312, essv14499280, essv14499286, essv14499316, essv14499308, essv14499291, essv14499272, essv14499277, essv14499288, essv14499265, essv14499283, essv14499281, essv14499290, essv14499301, essv14499264, essv14499269, essv14499292, essv14499307, essv14499296, essv14499311, essv14499309, essv14499289, essv14499314, essv14499306, essv14499295, essv14499294, essv14499263, essv14499271, essv14499267, essv14499313, essv14499304, essv14499284, essv14499278, essv14499298, essv14499285, essv14499275, essv14499279, essv14499276, essv14499299
SamplesHG03163, HG02580, HG03370, NA18861, HG03521, NA18871, NA18523, HG02799, NA19149, NA19455, HG02419, NA19319, HG03452, HG03133, HG02014, HG02322, HG02817, NA19651, HG02323, NA19474, HG01551, NA19117, HG02703, HG03436, NA19096, HG02557, NA19908, HG03100, HG00742, NA19377, NA19189, HG03195, HG03473, NA20334, NA19098, HG02971, HG02852, NA19707, HG02052, NA20355, HG03175, HG02570, HG03224, HG02923, HG01390, HG03240, HG03081, HG02589, HG03025, HG03369, HG01108, NA18853, HG02051, NA19092
Known GenesSLC16A7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629666
Frequency
Sample Size2504
Observed Gain0
Observed Loss54
Observed Complex0
Frequencyn/a


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