A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1720628



Internal ID12537060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75044204..75044521hg38UCSC Ensembl
chr17:73040299..73040616hg19UCSC Ensembl
chr17:70551894..70552211hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38318
hg19318
hg18318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4071010
SamplesHuRef
Known GenesATP5H
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1720628
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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