A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643130



Internal ID7029899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:74864127..74865814hg38UCSC Ensembl
Innerchr18:74864177..74865764hg38UCSC Ensembl
Outerchr18:74864077..74865864hg38UCSC Ensembl
chr18:72576083..72577770hg19UCSC Ensembl
Innerchr18:72576133..72577720hg19UCSC Ensembl
Outerchr18:72576033..72577820hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg381688
hg191688
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15934207, essv15934206, essv15934208, essv15934209
SamplesHG03679, NA06984, HG04029, HG04075
Known GenesZNF407
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643130
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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