A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv79e55



Internal ID22761029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:19734966..19964885hg38UCSC Ensembl
chr14:20203125..20433044hg19UCSC Ensembl
chr14:19272965..19502884hg18UCSC Ensembl
chr14:19272965..19502884hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38229920
hg19229920
hg18229920
hg17229920
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34638, esv2751170, esv34582, esv2751242, esv2751174, esv34645, esv2751194, esv34398, esv34443, esv2751190, esv2751241, esv2751239, esv2751171, esv2751238, esv34980, esv34626, esv2751237, esv2751254, esv34521, esv34969, esv2751219, esv34321, esv35020, esv2751172, esv2751175, esv34250, esv2751236, esv2751253, esv34625, esv2751235, esv35009, esv2751173
SamplesNA18998, BEC_721, NA18561, NA12865, NA18633, NA12155, NA12813, NA18944, NA18940, BEC_586, NA18611, SPC_7, NA18966, BEC_9, NA18515, BEC_581, NA18991, NA18529, NA18981, BEC_618, NA18537, NA18573, BEC_415, NA18532, NA18974, NA18952, BEC_468, NA12874, NA18972, NA18552, NA18622, NA18577
Known GenesOR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv79e55
Frequency
Sample Size771
Observed Gain0
Observed Loss67
Observed Complex0
Frequencyn/a


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