A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988017



Internal ID6723991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:180661512..180670316hg38UCSC Ensembl
Outerchr1:180630648..180639452hg19UCSC Ensembl
Outerchr1:178897271..178906075hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg388805
hg198805
hg188805
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565500
SamplesHuRef
Known GenesXPR1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988017
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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