A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3720022



Internal ID11695162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39498926..39499209hg38UCSC Ensembl
chr17:37655179..37655462hg19UCSC Ensembl
chr17:34908705..34908988hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38284
hg19284
hg18284
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1352810
Supporting Variants
SamplesHuRef
Known GenesCDK12
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3720022
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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