A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9633147



Internal ID13444171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:29084500..29084519hg38UCSC Ensembl
Innerchr7:29084496..29084523hg38UCSC Ensembl
Outerchr7:29084477..29084542hg38UCSC Ensembl
chr7:29124116..29124135hg19UCSC Ensembl
Innerchr7:29124112..29124139hg19UCSC Ensembl
Outerchr7:29124093..29124158hg19UCSC Ensembl
chr7:29090641..29090660hg18UCSC Ensembl
Innerchr7:29090664..29090637hg18UCSC Ensembl
Outerchr7:29090618..29090683hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3363043
Supporting Variants
SamplesNA12287
Known GenesCPVL
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9633147
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