A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25796878



Internal ID19166959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146522277..146792513hg38UCSC Ensembl
Innerchr7:146219369..146489605hg19UCSC Ensembl
Innerchr7:145850302..146120538hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38270237
hg19270237
hg18270237
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891229
Supporting Variants
Samples
Known GenesCNTNAP2
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=48
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25796878
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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