A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615368



Internal ID6655567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146497447..146595425hg38UCSC Ensembl
chr7:146194539..146292517hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3897979
hg1997979
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12997732, essv12997733
SamplesHG03705, HG03814
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615368
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