A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv252e55



Internal ID22761202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:136645549..136898857hg38UCSC Ensembl
chr8:137657792..137911100hg19UCSC Ensembl
chr8:137726974..137980282hg18UCSC Ensembl
chr8:137726974..137980282hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38253309
hg19253309
hg18253309
hg17253309
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2752218, esv2752239, esv2752237, esv2752214, esv35104, esv34538, esv2752228, esv2752238, esv34900, esv34379, esv2752226, esv2752229, esv2752232, esv2752227, esv2752235, esv2752233, esv2752221, esv2752240, esv2752219, esv2752216, esv2752236, esv2752211, esv2752215, esv2752213, esv2752224, esv2752225, esv2752231, esv2752220, esv2752217, esv2752234, esv34324, esv2752222, esv2752223, esv35111, esv2752212, esv2752230
SamplesSPC_173, BEC_603, BEC_575, SPC_36, BEC_644, BEC_543, BEC_735, NA07357, BEC_408, NA10835, BEC_177, SPC_3, SPC_129, BEC_91, BEC_333, BEC_402, SPC_163, SPC_156, BEC_362, BEC_405, NA12249, NA12056, BEC_406, BEC_565, BEC_516, BEC_737, BEC_669, SPC_133, BEC_175, BEC_625, SPC_52, NA12874, SPC_194, BEC_353, NA11832, SPC_167
Known Genes
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)dgv252e55
Frequency
Sample Size771
Observed Gain0
Observed Loss143
Observed Complex0
Frequencyn/a


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