A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750899



Internal ID12984451
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 StatusM
Merged Variants
Supporting Variantsessv6988794, essv6984365, essv6984364
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
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2750899
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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