A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615386



Internal ID6655585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146825674..146826678hg38UCSC Ensembl
Innerchr7:146825674..146826678hg38UCSC Ensembl
Outerchr7:146825626..146826734hg38UCSC Ensembl
chr7:146522766..146523770hg19UCSC Ensembl
Innerchr7:146522766..146523770hg19UCSC Ensembl
Outerchr7:146522718..146523826hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381005
hg191005
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12998050, essv12998049
SamplesHG00766, HG00476
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615386
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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