A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980014



Internal ID12981141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46216415..47742076hg19UCSC Ensembl
Innerchr10:45536421..47212082hg18UCSC Ensembl
Innerchr10:45536421..47212082hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg191525662
hg181675662
hg171675662
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34875
Supporting Variants
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
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980014
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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