A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4071010



Internal ID11344178
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1720628
Supporting Variants
SamplesHuRef
Known GenesATP5H
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4071010
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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