A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6530038



Internal ID9507441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:91438569..92069128hg38UCSC Ensembl
Outerchr2:91438535..92069163hg38UCSC Ensembl
Innerchr2:91631125..92257154hg19UCSC Ensembl
Outerchr2:91631091..92257189hg19UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38630629
hg19626099
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2656620
Supporting Variants
SamplesHG00116
Known GenesACTR3BP2, GGT8P, LOC654342
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6530038
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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