A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv127e55



Internal ID11595563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45927606..46733750hg38UCSC Ensembl
chr17:44004972..44811116hg19UCSC Ensembl
chr17:41360800..42166300hg18UCSC Ensembl
chr17:41360800..42166300hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38806145
hg19806145
hg18805501
hg17805501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751734, esv2751750, esv2751741, esv2751691, esv2751747, esv2751749, esv2751756, esv2751733, esv2751694, esv2751742, esv2751748, esv2751735, esv2751692, esv2751732, esv2751695, esv2751697, esv2751685, esv2751705
SamplesBEC_497, BEC_711, BEC_826, BEC_397, BEC_512, SPC_188, BEC_101, BEC_722, BEC_359, BEC_549, BEC_126, SPC_10, BEC_316, BEC_603, SPC_25, BEC_644, BEC_41, BEC_191
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, MAPT, NSF, NSFP1, STH
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)dgv127e55
Frequency
Sample Size771
Observed Gain69
Observed Loss0
Observed Complex0
Frequencyn/a


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