A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4247274



Internal ID11529812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:147489704..147489766hg38UCSC Ensembl
chr1:146961517..146961589hg19UCSC Ensembl
chr1:145428141..145428213hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3863
hg1973
hg1873
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1706389
Supporting Variants
SamplesHuRef
Known GenesLINC00624
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4247274
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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