A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12998061



Internal ID1842382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146873137..146891715hg38UCSC Ensembl
chr7:146570229..146588807hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3818579
hg1918579
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615388
Supporting Variants
SamplesHG01708
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12998061
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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