A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv117e55



Internal ID22761067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:35176198..35562160hg38UCSC Ensembl
chr16:34410569..34796531hg19UCSC Ensembl
chr16:34268070..34654032hg18UCSC Ensembl
chr16:34268070..34654032hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38385963
hg19385963
hg18385963
hg17385963
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751578, esv2751566, esv2751606, esv2751562, esv2751575, esv2751584, esv2751565, esv2751588, esv2751603, esv2751587, esv2751590, esv2751597, esv2751567, esv2751591, esv2751580, esv2751589, esv2751561, esv2751602, esv2751595, esv2751583, esv2751572, esv2751577, esv2751585, esv2751592, esv2751604, esv2751563, esv2751596, esv2751582, esv2751560, esv2751605, esv2751570, esv2751559, esv2751579, esv2751581, esv2751599, esv2751569, esv2751600, esv2751571, esv2751601, esv34552, esv2751607, esv34829, esv2751598, esv2751576, esv2751573, esv2751593, esv2751586, esv2751568, esv2751558, esv2751594, esv2751574, esv2751564
SamplesSPC_162, BEC_98, BEC_682, BEC_575, BEC_775, BEC_708, BEC_376, BEC_793, BEC_668, BEC_513, BEC_646, BEC_687, BEC_653, NA12813, BEC_637, BEC_635, BEC_660, BEC_333, BEC_685, BEC_596, BEC_547, SPC_37, BEC_604, SPC_141, BEC_89, SPC_20, BEC_606, BEC_578, BEC_676, BEC_32, BEC_483, BEC_424, BEC_510, BEC_550, BEC_415, BEC_652, BEC_667, BEC_565, BEC_524, BEC_626, BEC_114, BEC_810, BEC_625, BEC_559, BEC_280, BEC_182, SPC_194, SPC_186, BEC_389, BEC_734, NA10860, BEC_293
Known GenesLOC100130700, LOC146481, LOC283914
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)dgv117e55
Frequency
Sample Size771
Observed Gain143
Observed Loss0
Observed Complex0
Frequencyn/a


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