A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673327



Internal ID9592746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6376160..6384159hg38UCSC Ensembl
Outerchr1:6376003..6384312hg38UCSC Ensembl
Innerchr1:6436220..6444219hg19UCSC Ensembl
Outerchr1:6436063..6444372hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg388310
hg198310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11e199
Supporting Variantsessv5423268, essv6037113, essv6419100, essv6282621, essv6053862, essv5534865, essv5931324, essv5878385
SamplesHG01140, HG00138, HG00325, HG00159, NA12342, HG00684, HG00246, NA20504
Known GenesACOT7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673327
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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