A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988794



Internal ID12976875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46210751..47136996hg19UCSC Ensembl
Innerchr10:45530757..46557002hg18UCSC Ensembl
Innerchr10:45530757..46557002hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg19926246
hg181026246
hg171026246
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750899
Supporting Variants
SamplesBEC_695
Known GenesAGAP4, BMS1P1, BMS1P5, FAM21C, FAM35BP, FRMPD2P1, GLUD1P7, GPRIN2, HNRNPA1P33, LINC00842, LOC100996758, NPY4R, PTPN20A, PTPN20B, SYT15
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988794
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