A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747207



Internal ID9981491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:29491667..29492509hg38UCSC Ensembl
Outerchr13:30065804..30066646hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38843
hg19843
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6936289, essv6677956, essv6779586, essv6791982, essv6724627, essv6783692, essv6773464, essv6940486, essv6695705, essv6912744, essv6857423, essv6959492, essv6905026, essv6728460, essv6924474, essv6953369, essv6842571, essv6920347, essv6873782, essv6900532, essv6931990, essv6772200, essv6800358, essv6673367, essv6851416, essv6916252
SamplesSSM008, SSM045, SSM046, SSM065, SSM087, SSM013, SSM084, SSM021, SSM018, SSM026, SSM017, SSM032, SSM031, SSM067, SSM086, SSM068, SSM072, SSM020, SSM015, SSM016, SSM037, SSM022, SSM091, SSM070, SSM025, SSM012
Known GenesMTUS2
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)esv2747207
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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