A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1593331



Internal ID12756452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45729168..45729240hg38UCSC Ensembl
chr17:43806534..43806606hg19UCSC Ensembl
chr17:41162317..41162389hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3873
hg1973
hg1873
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4269634
SamplesHuRef
Known GenesCRHR1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1593331
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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