A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621585



Internal ID7008453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:116254694..116258569hg38UCSC Ensembl
Innerchr9:116254844..116258419hg38UCSC Ensembl
Outerchr9:116254544..116258719hg38UCSC Ensembl
chr9:119016973..119020848hg19UCSC Ensembl
Innerchr9:119017123..119020698hg19UCSC Ensembl
Outerchr9:119016823..119020998hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg383876
hg193876
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13609529, essv13609535, essv13609517, essv13609528, essv13609530, essv13609515, essv13609501, essv13609543, essv13609511, essv13609531, essv13609537, essv13609565, essv13609548, essv13609552, essv13609519, essv13609504, essv13609538, essv13609532, essv13609562, essv13609560, essv13609510, essv13609522, essv13609507, essv13609536, essv13609549, essv13609534, essv13609553, essv13609514, essv13609563, essv13609513, essv13609505, essv13609540, essv13609555, essv13609506, essv13609558, essv13609509, essv13609557, essv13609518, essv13609564, essv13609545, essv13609523, essv13609551, essv13609502, essv13609524, essv13609554, essv13609527, essv13609541, essv13609520, essv13609539, essv13609547, essv13609544, essv13609516, essv13609556, essv13609559, essv13609550, essv13609561, essv13609525, essv13609512, essv13609542, essv13609503, essv13609526, essv13609521, essv13609546, essv13609533, essv13609508
SamplesHG01795, HG00524, NA18565, HG02029, NA18599, HG03589, HG02691, NA18625, HG03792, HG02356, NA18962, NA18988, HG00271, HG03016, HG00689, HG04144, NA19062, NA21103, NA18949, NA18611, HG02395, HG01813, HG04106, HG04238, HG03995, NA20845, HG01844, NA18975, NA18614, NA18544, HG04062, HG04019, NA19064, NA18626, HG04054, HG00404, HG03858, HG02121, NA20856, HG00613, NA19059, HG01679, NA21142, HG01812, NA18533, HG01597, HG00625, HG00366, NA19090, HG02179, HG00607, HG01862, NA20888, HG02700, HG02128, NA21090, HG02699, HG00656, NA18994, NA20826, NA18989, NA19011, HG02020, NA19063, NA19065
Known GenesPAPPA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621585
Frequency
Sample Size2504
Observed Gain0
Observed Loss65
Observed Complex0
Frequencyn/a


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