A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642371



Internal ID7029141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:43300372..43324056hg38UCSC Ensembl
Innerchr18:43300372..43324056hg38UCSC Ensembl
Outerchr18:43299872..43324556hg38UCSC Ensembl
chr18:40880337..40904021hg19UCSC Ensembl
Innerchr18:40880337..40904021hg19UCSC Ensembl
Outerchr18:40879837..40904521hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3823685
hg1923685
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15856357, essv15856342, essv15856356, essv15856358, essv15856341, essv15856352, essv15856337, essv15856360, essv15856333, essv15856359, essv15856351, essv15856332, essv15856355, essv15856340, essv15856349, essv15856339, essv15856343, essv15856348, essv15856353, essv15856336, essv15856347, essv15856334, essv15856345, essv15856344, essv15856346, essv15856354, essv15856335, essv15856338, essv15856350
SamplesHG03111, NA20274, HG02798, HG02870, HG03100, HG03297, HG03372, NA19171, NA19723, NA20287, NA19923, NA19317, NA19456, NA20127, NA19347, HG03123, HG02979, NA19318, HG03539, HG01375, HG03419, HG03084, HG03432, HG02107, HG03470, NA19121, NA19463, NA18522, HG03271
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642371
Frequency
Sample Size2504
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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