A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1309761



Internal ID12126197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148409772..148409906hg38UCSC Ensembl
chr7:148106864..148106998hg19UCSC Ensembl
chr7:147737797..147737931hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38135
hg19135
hg18135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4267484
SamplesHuRef
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1309761
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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