A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3896583



Internal ID11865288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81425273..81425331hg38UCSC Ensembl
chr17:79399073..79399131hg19UCSC Ensembl
chr17:77013668..77013726hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1750680
Supporting Variants
SamplesHuRef
Known GenesBAHCC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3896583
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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