A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585256



Internal ID6972780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13115091..13128750hg38UCSC Ensembl
chr1:13182563..13196202hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3813660
hg1913640
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9859577, essv9859563, essv9859557, essv9859548, essv9859580, essv9859561, essv9859576, essv9859583, essv9859575, essv9859599, essv9859555, essv9859608, essv9859603, essv9859546, essv9859558, essv9859593, essv9859584, essv9859573, essv9859594, essv9859572, essv9859569, essv9859567, essv9859562, essv9859571, essv9859553, essv9859565, essv9859554, essv9859589, essv9859579, essv9859590, essv9859570, essv9859588, essv9859600, essv9859585, essv9859550, essv9859582, essv9859578, essv9859592, essv9859564, essv9859606, essv9859581, essv9859607, essv9859604, essv9859549, essv9859595, essv9859605, essv9859596, essv9859587, essv9859574, essv9859598, essv9859552, essv9859586, essv9859597, essv9859568, essv9859602, essv9859560, essv9859566, essv9859609, essv9859601, essv9859559, essv9859551, essv9859556, essv9859591, essv9859547
SamplesHG03514, HG01986, HG02339, NA19141, NA19700, NA19204, NA19378, HG03247, HG02419, NA18877, HG04002, HG04018, NA19446, NA18489, HG02325, HG03663, NA12287, HG03040, HG00537, HG02922, HG03460, NA19385, NA12815, HG03352, NA19026, HG03380, HG00118, NA19189, HG03073, HG03114, HG02882, HG04225, HG02152, NA19347, HG03291, HG03457, HG02728, NA18910, HG03756, HG03081, HG01808, HG03078, HG02881, NA19452, NA19225, HG03354, HG02332, HG03567, HG01190, NA19108, NA19037, NA19835, HG02839, NA20281, HG02771, HG01785, HG00478, HG03313, HG00421, NA19093, HG03077, NA19430, HG02851, NA19214
Known GenesHNRNPCP5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585256
Frequency
Sample Size2504
Observed Gain0
Observed Loss64
Observed Complex0
Frequencyn/a


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