A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749816



Internal ID9984100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:68421006..68421259hg38UCSC Ensembl
Outerchr15:68713345..68713598hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6900939, essv6673848, essv6820202, essv6857872, essv6851874, essv6867694, essv6665330, essv6959982, essv6824046, essv6685448, essv6966466
SamplesSSM100, SSM027, SSM079, SSM087, SSM029, SSM026, SSM089, SSM031, SSM086, SSM078, SSM034
Known GenesITGA11
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)esv2749816
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer