A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750309



Internal ID10331279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1237991..1247946hg38UCSC Ensembl
Outerchr16:1287992..1297947hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg389956
hg199956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6824085, essv6942806, essv6953741, essv6953739, essv6713395, essv6776134, essv6688654, essv6812557, essv6966548, essv6717261, essv6888351, essv6846307, essv6806730, essv6755925, essv6796492, essv6768851, essv6796493, essv6761313, essv6735485, essv6784041, essv6820251, essv6713876, essv6809888, essv6815846, essv6905344, essv6800708, essv6879813, essv6678284, essv6846306, essv6744351, essv6768852, essv6891663, essv6940813, essv6815847, essv6851948, essv6916537, essv6920701, essv6901751, essv6885380, essv6838087, essv6800707, essv6913048
SamplesSSM071, SSM027, SSM064, SSM079, SSM097, SSM013, SSM009, SSM093, SSM074, SSM042, SSM058, SSM061, SSM096, SSM017, SSM035, SSM032, SSM003, SSM086, SSM066, SSM006, SSM085, SSM068, SSM072, SSM015, SSM078, SSM016, SSM053, SSM077, SSM076, SSM022, SSM010, SSM095, SSM025, SSM043, SSM049, SSM012
Known GenesTPSAB1
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)esv2750309
Frequency
Sample Size96
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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