A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614702



Internal ID6654907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:116905500..117056329hg38UCSC Ensembl
Innerchr7:116905650..117056179hg38UCSC Ensembl
Outerchr7:116905350..117056479hg38UCSC Ensembl
chr7:116545554..116696383hg19UCSC Ensembl
Innerchr7:116545704..116696233hg19UCSC Ensembl
Outerchr7:116545404..116696533hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg38150830
hg19150830
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1324e214
Supporting Variantsessv12937009, essv12937008
SamplesHG03928, HG03805
Known GenesCAPZA2, MIR6132, ST7, ST7-AS1, ST7-OT4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614702
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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