A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981718



Internal ID12972567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:14219978..14228878hg38UCSC Ensembl
Innerchr2:14360102..14369002hg19UCSC Ensembl
Innerchr2:14277553..14286453hg18UCSC Ensembl
Innerchr2:14310700..14319600hg17UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg388901
hg198901
hg188901
hg178901
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751829
Supporting Variants
SamplesBEC_328
Known GenesLINC00276
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981718
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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