A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750893



Internal ID12984445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:44699737..44861146hg38UCSC Ensembl
Innerchr10:45195185..45356594hg19UCSC Ensembl
Innerchr10:44515191..44676600hg18UCSC Ensembl
Innerchr10:44515191..44676600hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38161410
hg19161410
hg18161410
hg17161410
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv21e55
Supporting Variantsessv6982366, essv6982367, essv6982368, essv6982365
SamplesBEC_428
Known GenesTMEM72-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2750893
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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