A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693783



Internal ID14692099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:96801288..96802486hg38UCSC Ensembl
Innerchr2:96801486..96802288hg38UCSC Ensembl
Outerchr2:96800288..96803486hg38UCSC Ensembl
chr2:97467025..97468223hg19UCSC Ensembl
Innerchr2:97467223..97468025hg19UCSC Ensembl
Outerchr2:97466025..97469223hg19UCSC Ensembl
chr2:96830752..96831950hg18UCSC Ensembl
Innerchr2:96831752..96830950hg18UCSC Ensembl
Outerchr2:96829752..96832950hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3387574
Supporting Variants
SamplesNA19239
Known GenesCNNM4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693783
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