A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12761754



Internal ID2763570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:47708002..47898700hg38UCSC Ensembl
chr7:47747600..47938297hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38190699
hg19190698
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613069
Supporting Variants
SamplesNA20289
Known GenesC7orf69, LINC00525, PKD1L1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12761754
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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