A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3995351



Internal ID11766522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146712283..146712283hg38UCSC Ensembl
chr7:146409375..146409375hg19UCSC Ensembl
chr7:146040308..146040308hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1669432
Supporting Variants
SamplesHuRef
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3995351
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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