A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749620



Internal ID10330590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:41573479..41577890hg38UCSC Ensembl
Outerchr15:41865677..41870088hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg384412
hg194412
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6741376, essv6842852, essv6831706, essv6788169, essv6831707, essv6911250, essv6932283, essv6842854, essv6741364, essv6835248, essv6909260, essv6873976, essv6932285, essv6824019
SamplesSSM079, SSM002, SSM084, SSM069, SSM014, SSM081, SSM082, SSM020, SSM007, SSM091
Known GenesTYRO3
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)esv2749620
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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