A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748038



Internal ID10329008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110676992..110677927hg38UCSC Ensembl
Outerchr13:111329339..111330274hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38936
hg19936
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv240e201
Supporting Variantsessv6959632, essv6924552, essv6846115, essv6827946, essv6894848, essv6685280, essv6772281, essv6728527, essv6842652, essv6720901, essv6796241, essv6977630, essv6673507, essv6741278, essv6787978, essv6920424, essv6882490, essv6851554, essv6901254, essv6900785, essv6702673, essv6732337, essv6807687, essv6851552, essv6724694, essv6706402, essv6803646, essv6966153, essv6912821, essv6749838, essv6953454, essv6768663, essv6698915, essv6971049, essv6940806, essv6792062, essv6867434, essv6873839, essv6959631, essv6949304, essv6945183, essv6905094, essv6936384, essv6678033, essv6747007, essv6876834, essv6838823, essv6735376, essv6809562, essv6806546, essv6758373, essv6765894, essv6755741, essv6709680, essv6857558, essv6916316, essv6815637, essv6949305, essv6779656, essv6909098, essv6740031
SamplesSSM100, SSM059, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM064, SSM065, SSM087, SSM038, SSM039, SSM013, SSM009, SSM073, SSM074, SSM041, SSM023, SSM058, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM069, SSM029, SSM026, SSM089, SSM017, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM085, SSM040, SSM007, SSM015, SSM016, SSM080, SSM077, SSM091, SSM055, SSM070, SSM025, SSM034, SSM052, SSM098, SSM056, SSM063, SSM012
Known GenesCARS2
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)esv2748038
Frequency
Sample Size96
Observed Gain0
Observed Loss58
Observed Complex0
Frequencyn/a


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