A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1417163



Internal ID12233599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148365989..148366183hg38UCSC Ensembl
chr7:148063081..148063275hg19UCSC Ensembl
chr7:147694014..147694208hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38195
hg19195
hg18195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4341843
SamplesHuRef
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1417163
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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