A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1148307



Internal ID11964744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146535112..146535112hg38UCSC Ensembl
chr7:146232204..146232204hg19UCSC Ensembl
chr7:145863137..145863137hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4185356
SamplesHuRef
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1148307
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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