A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749851



Internal ID10330821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:71593063..71593470hg38UCSC Ensembl
Outerchr15:71885402..71885809hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38408
hg19408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6824052, essv6788191, essv6862909, essv6932304, essv6857881, essv6688625, essv6820210, essv6882652, essv6879789, essv6851885, essv6678244, essv6839039, essv6842877, essv6945435, essv6867699, essv6815816, essv6909290, essv6702877, essv6717216, essv6913003, essv6812528, essv6665338, essv6800658, essv6966476, essv6792282, essv6685452, essv6837843, essv6673855, essv6895033, essv6828127, essv6888320, essv6891633, essv6959992, essv6924769, essv6728712
SamplesSSM083, SSM027, SSM046, SSM079, SSM087, SSM097, SSM039, SSM093, SSM088, SSM023, SSM084, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM014, SSM086, SSM072, SSM020, SSM015, SSM078, SSM080, SSM077, SSM076, SSM010, SSM070, SSM034, SSM043, SSM098
Known GenesTHSD4
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)esv2749851
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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