A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642388



Internal ID7029158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:44183967..44196990hg38UCSC Ensembl
Innerchr18:44183967..44196990hg38UCSC Ensembl
Outerchr18:44183712..44197237hg38UCSC Ensembl
chr18:41763932..41776955hg19UCSC Ensembl
Innerchr18:41763932..41776955hg19UCSC Ensembl
Outerchr18:41763677..41777202hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3813024
hg1913024
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15856454, essv15856453, essv15856446, essv15856450, essv15856449, essv15856448, essv15856445, essv15856456, essv15856451, essv15856444, essv15856447, essv15856452, essv15856455, essv15856457
SamplesNA20761, NA19700, HG03667, NA12762, NA20910, HG03619, NA19722, NA20889, NA12777, NA20859, HG02601, NA07051, HG01765, NA19779
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642388
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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