A curated catalogue of human genomic structural variation




Variant Details

Variant: esv991390



Internal ID6727354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148375773..148379232hg38UCSC Ensembl
chr7:148072865..148076324hg19UCSC Ensembl
chr7:147703798..147707257hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg383460
hg193460
hg183460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3576768
SamplesHuRef
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv991390
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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