A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25798905



Internal ID19166111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146613296..146716405hg38UCSC Ensembl
Innerchr7:146310388..146413497hg19UCSC Ensembl
Innerchr7:145941321..146044430hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38103110
hg19103110
hg18103110
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891230
Supporting Variants
Samples
Known GenesCNTNAP2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=22
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25798905
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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