A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749727



Internal ID10330697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:56072329..56072555hg38UCSC Ensembl
Outerchr15:56364527..56364753hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6945417, essv6665304, essv6857848, essv6909272, essv6851855, essv6959963
SamplesSSM087, SSM023, SSM029, SSM026, SSM014, SSM086
Known Genes
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)esv2749727
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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