A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749949



Internal ID10330919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:81323255..81323532hg38UCSC Ensembl
Outerchr15:81615596..81615873hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6888330, essv6932315, essv6685459, essv6900948, essv6879797, essv6851902, essv6702886, essv6806711, essv6949539
SamplesSSM100, SSM024, SSM039, SSM093, SSM074, SSM096, SSM086, SSM020, SSM034
Known GenesSTARD5
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)esv2749949
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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