A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4127750



Internal ID11410289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81425774..81425866hg38UCSC Ensembl
chr17:79399574..79399666hg19UCSC Ensembl
chr17:77014169..77014261hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3893
hg1993
hg1893
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1551656
Supporting Variants
SamplesHuRef
Known GenesBAHCC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4127750
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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