A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1745617



Internal ID12562049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:24345275..24345275hg38UCSC Ensembl
chr1:24671765..24671765hg19UCSC Ensembl
chr1:24544352..24544352hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4185921
SamplesHuRef
Known GenesGRHL3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1745617
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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