A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3576768



Internal ID7048150
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 StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv991390
Supporting Variants
SamplesHuRef
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3576768
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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