A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891227



Internal ID18838937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146335395..146424446hg38UCSC Ensembl
Outerchr7:146323844..146425696hg38UCSC Ensembl
Innerchr7:146032487..146121538hg19UCSC Ensembl
Outerchr7:146020936..146122788hg19UCSC Ensembl
Innerchr7:145663420..145752471hg18UCSC Ensembl
Outerchr7:145651869..145753721hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38101853
hg19101853
hg18101853
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25783864, essv25786457, essv25797521
Samples
Known GenesCNTNAP2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891227
Frequency
Sample Size3017
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer