A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695072



Internal ID13698242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:160610630..160646928hg38UCSC Ensembl
Innerchr6:160611630..160645928hg38UCSC Ensembl
Outerchr6:160609630..160647928hg38UCSC Ensembl
chr6:161031662..161067960hg19UCSC Ensembl
Innerchr6:161032662..161066960hg19UCSC Ensembl
Outerchr6:161030662..161068960hg19UCSC Ensembl
chr6:160951652..160987950hg18UCSC Ensembl
Innerchr6:160952652..160986950hg18UCSC Ensembl
Outerchr6:160950652..160988950hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3836299
hg1936299
hg1836299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3325522
Supporting Variants
SamplesNA12891
Known GenesLPA
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695072
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