A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8674528



Internal ID15007663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158426100..158426129hg38UCSC Ensembl
Innerchr2:158426113..158426116hg38UCSC Ensembl
Outerchr2:158426084..158426145hg38UCSC Ensembl
chr2:159282612..159282641hg19UCSC Ensembl
Innerchr2:159282625..159282628hg19UCSC Ensembl
Outerchr2:159282596..159282657hg19UCSC Ensembl
chr2:158990858..158990887hg18UCSC Ensembl
Innerchr2:158990874..158990871hg18UCSC Ensembl
Outerchr2:158990842..158990903hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38128
hg19128
hg18128
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3439506
Supporting Variants
SamplesNA19238
Known GenesCCDC148
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8674528
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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