A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1216422



Internal ID12032859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180656444..180656444hg38UCSC Ensembl
chr1:180625580..180625580hg19UCSC Ensembl
chr1:178892203..178892203hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3889
hg1989
hg1889
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4339051
SamplesHuRef
Known GenesXPR1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1216422
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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