A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1366533



Internal ID12182971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:56811624..56811624hg38UCSC Ensembl
chr17:54888985..54888985hg19UCSC Ensembl
chr17:52243984..52243984hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3876
hg1976
hg1876
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4133576
SamplesHuRef
Known GenesC17orf67
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1366533
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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