A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748403



Internal ID9982687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113831279..113832368hg38UCSC Ensembl
Outerchr13:114534252..114535341hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381090
hg191090
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6736598, essv6774420, essv6673569, essv6717051, essv6905124, essv6735348, essv6862678, essv6836510, essv6758391, essv6920458, essv6765907, essv6747027, essv6740165, essv6775934, essv6749853, essv6755755, essv6891483, essv6879655, essv6977681, essv6819999, essv6691811, essv6783815, essv6761139, essv6876853, essv6953494, essv6732371, essv6763528, essv6851600, essv6744193, essv6691812, essv6966200, essv6685303, essv6910174, essv6916338, essv6973106, essv6838859, essv6842695, essv6738067, essv6857596, essv6772316
SamplesSSM010, SSM065, SSM007, SSM027, SSM092, SSM013, SSM053, SSM086, SSM036, SSM055, SSM084, SSM061, SSM078, SSM043, SSM088, SSM031, SSM025, SSM016, SSM001, SSM083, SSM050, SSM097, SSM062, SSM093, SSM056, SSM017, SSM066, SSM029, SSM047, SSM002, SSM034, SSM063, SSM087, SSM068, SSM004, SSM049, SSM008, SSM058, SSM059
Known GenesGAS6, GAS6-AS1
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2748403
Frequency
Sample Size96
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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