A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642588



Internal ID6682668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54834721..54836929hg38UCSC Ensembl
Innerchr18:54834722..54836929hg38UCSC Ensembl
Outerchr18:54834721..54836930hg38UCSC Ensembl
chr18:52501952..52504160hg19UCSC Ensembl
Innerchr18:52501953..52504160hg19UCSC Ensembl
Outerchr18:52501952..52504161hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg382209
hg192209
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15883375, essv15883388, essv15883374, essv15883397, essv15883366, essv15883387, essv15883391, essv15883385, essv15883382, essv15883398, essv15883386, essv15883372, essv15883373, essv15883396, essv15883392, essv15883378, essv15883389, essv15883371, essv15883395, essv15883362, essv15883381, essv15883402, essv15883399, essv15883403, essv15883379, essv15883376, essv15883383, essv15883368, essv15883394, essv15883401, essv15883393, essv15883390, essv15883369, essv15883364, essv15883400, essv15883365, essv15883380, essv15883363, essv15883367, essv15883370, essv15883384, essv15883377
SamplesHG02854, NA19436, HG02882, HG02816, HG01098, HG01915, HG02887, HG03048, HG02497, HG02676, HG03538, NA19236, HG02646, HG02568, NA19107, NA19351, HG02851, HG02143, NA19316, NA19324, HG02840, NA19153, HG01063, NA20357, HG02635, NA19403, HG02144, NA18864, NA19041, NA18499, HG01912, HG02485, NA19346, HG02813, NA18908, NA19473, HG02574, NA19468, NA19385, HG02425, HG02769, HG03091
Known GenesRAB27B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642588
Frequency
Sample Size2504
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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