A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643716



Internal ID6683787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12912023..12912444hg38UCSC Ensembl
Innerchr19:12912024..12912443hg38UCSC Ensembl
Outerchr19:12912022..12912445hg38UCSC Ensembl
chr19:13022837..13023258hg19UCSC Ensembl
Innerchr19:13022838..13023257hg19UCSC Ensembl
Outerchr19:13022836..13023259hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38422
hg19422
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15995513, essv15995514, essv15995510, essv15995545, essv15995489, essv15995502, essv15995515, essv15995548, essv15995524, essv15995500, essv15995531, essv15995516, essv15995535, essv15995525, essv15995526, essv15995519, essv15995541, essv15995496, essv15995534, essv15995490, essv15995554, essv15995543, essv15995487, essv15995492, essv15995497, essv15995521, essv15995488, essv15995507, essv15995503, essv15995546, essv15995520, essv15995530, essv15995508, essv15995499, essv15995501, essv15995538, essv15995528, essv15995517, essv15995539, essv15995553, essv15995522, essv15995529, essv15995542, essv15995518, essv15995537, essv15995532, essv15995494, essv15995493, essv15995523, essv15995544, essv15995509, essv15995551, essv15995550, essv15995498, essv15995540, essv15995552, essv15995533, essv15995491, essv15995495, essv15995505, essv15995512, essv15995504, essv15995506, essv15995511, essv15995536, essv15995527, essv15995547, essv15995549
SamplesHG02583, HG02973, HG03175, NA19704, HG02419, NA19020, NA18877, HG02804, HG02323, NA20332, HG03126, NA19098, NA18870, HG03095, HG03082, NA18489, HG03499, HG02756, HG03225, HG02623, HG03583, NA20127, NA18867, HG02009, HG02570, HG03363, NA19152, HG02678, NA19663, NA19236, HG02322, HG03457, NA18915, HG02537, HG01092, NA19449, HG03136, HG02817, NA18856, NA19113, HG02309, NA18858, HG01956, HG02772, NA19206, NA19309, HG02807, NA18909, NA19108, HG03461, NA19149, HG03437, HG02010, HG02923, HG02837, HG03473, HG02580, NA19143, NA19328, NA20348, HG02053, NA19713, HG03258, NA19102, HG03538, NA19121, HG02855, HG02851
Known GenesSYCE2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643716
Frequency
Sample Size2504
Observed Gain0
Observed Loss68
Observed Complex0
Frequencyn/a


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