A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15830581



Internal ID2947130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:28761241..28844868hg38UCSC Ensembl
Innerchr18:28761241..28844868hg38UCSC Ensembl
Outerchr18:28760741..28845368hg38UCSC Ensembl
chr18:26341205..26424833hg19UCSC Ensembl
Innerchr18:26341205..26424833hg19UCSC Ensembl
Outerchr18:26340705..26425333hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3883628
hg1983629
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642068
Supporting Variants
SamplesHG02603
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15830581
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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