A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34875



Internal ID12990911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46216415..47742094hg19UCSC Ensembl
Innerchr10:45536421..47212100hg18UCSC Ensembl
Innerchr10:45536421..47212100hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg191525680
hg181675680
hg171675680
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6980015, essv6986995, essv6980014, essv6980018, essv6990434, essv6980017, essv6986996, essv6980016
SamplesNA18940
Known GenesAGAP4, AGAP9, ANTXRL, ANTXRLP1, ANXA8, BMS1P1, BMS1P2, BMS1P5, BMS1P6, FAM21C, FAM25B, FAM25C, FAM25G, FAM35BP, FAM35DP, 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)esv34875
Frequency
Sample Size771
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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