A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1314998



Internal ID12131434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146535122..146535122hg38UCSC Ensembl
chr7:146232214..146232214hg19UCSC Ensembl
chr7:145863147..145863147hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38136
hg19136
hg18136
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3740484
SamplesHuRef
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1314998
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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