A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750898



Internal ID12984450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46045761..47593951hg19UCSC Ensembl
Innerchr10:45365767..47063957hg18UCSC Ensembl
Innerchr10:45365767..47063957hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg191548191
hg181698191
hg171698191
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6989807, essv6983536
SamplesBEC_667
Known GenesAGAP4, AGAP9, ANTXRLP1, ANXA8, BMS1P1, BMS1P2, BMS1P5, BMS1P6, FAM21C, FAM25C, FAM25G, FAM35BP, FAM35DP, FRMPD2P1, GLUD1P7, GPRIN2, HNRNPA1P33, LINC00842, LOC100996758, MARCH8, NPY4R, PTPN20A, PTPN20B, SYT15, ZFAND4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2750898
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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