A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641942



Internal ID7028713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:21782467..21783882hg38UCSC Ensembl
Innerchr18:21782473..21783877hg38UCSC Ensembl
Outerchr18:21782462..21783888hg38UCSC Ensembl
chr18:19362428..19363843hg19UCSC Ensembl
Innerchr18:19362434..19363838hg19UCSC Ensembl
Outerchr18:19362423..19363849hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg381416
hg191416
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15818673, essv15818638, essv15818650, essv15818662, essv15818645, essv15818670, essv15818681, essv15818666, essv15818641, essv15818646, essv15818663, essv15818675, essv15818661, essv15818678, essv15818668, essv15818659, essv15818677, essv15818653, essv15818652, essv15818649, essv15818639, essv15818656, essv15818640, essv15818654, essv15818669, essv15818671, essv15818647, essv15818674, essv15818676, essv15818648, essv15818657, essv15818672, essv15818655, essv15818637, essv15818665, essv15818679, essv15818643, essv15818658, essv15818664, essv15818642, essv15818680, essv15818660, essv15818644, essv15818667, essv15818651
SamplesHG04210, HG04096, NA20899, HG02734, NA21128, HG02792, HG02491, NA20911, HG03663, NA21108, NA21109, HG03746, HG03696, NA20889, HG04047, HG01844, NA20904, HG03697, HG03908, HG04039, HG03644, HG03786, NA21118, HG03854, NA21142, NA21087, NA20851, HG02684, HG03708, HG01874, HG03850, NA20902, HG03681, NA20897, HG03600, NA21102, HG03863, NA21133, HG04209, HG03925, HG02774, HG03611, HG04161, NA21120, NA21091
Known GenesMIB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641942
Frequency
Sample Size2504
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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