A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15934128



Internal ID6453048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:74806284..74829513hg38UCSC Ensembl
Innerchr18:74806784..74829013hg38UCSC Ensembl
Outerchr18:74805284..74830513hg38UCSC Ensembl
chr18:72518240..72541469hg19UCSC Ensembl
Innerchr18:72518740..72540969hg19UCSC Ensembl
Outerchr18:72517240..72542469hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3823230
hg1923230
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643127
Supporting Variants
SamplesNA20513
Known GenesZNF407
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15934128
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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