A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7122024



Internal ID10053620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:56776952..56777291hg38UCSC Ensembl
Outerchr1:57242625..57242964hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2852457
Supporting Variants
SamplesHuRef
Known GenesC1orf168
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7122024
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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