A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3359558



Internal ID15206537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:33155699..33155710hg38UCSC Ensembl
Innerchr7:33155689..33155717hg38UCSC Ensembl
Outerchr7:33155678..33155728hg38UCSC Ensembl
chr7:33195311..33195322hg19UCSC Ensembl
Innerchr7:33195301..33195329hg19UCSC Ensembl
Outerchr7:33195290..33195340hg19UCSC Ensembl
chr7:33161836..33161847hg18UCSC Ensembl
Innerchr7:33161854..33161826hg18UCSC Ensembl
Outerchr7:33161815..33161865hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8935143, essv8935146, essv8935150, essv8935123, essv8935142, essv8935133, essv8935141, essv8935131, essv8935134, essv8935128, essv8935151, essv8935121, essv8935130, essv8935132, essv8935144, essv8935140, essv8935139, essv8935127, essv8935129, essv8935122, essv8935149, essv8935126, essv8935138, essv8935124, essv8935148, essv8935135, essv8935137, essv8935145
SamplesNA12717, NA18561, NA18959, NA18940, NA11992, NA07347, NA18571, NA18964, NA12761, NA18638, NA11993, NA11831, NA10847, NA18951, NA18956, NA18523, NA18576, NA12043, NA19108, NA18564, NA12763, NA06986, NA12749, NA19116, NA18505, NA19129, NA18522, NA18577
Known GenesBBS9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3359558
Frequency
Sample Size185
Observed Gain28
Observed Loss0
Observed Complex0
Frequencyn/a


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