A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749699



Internal ID9983983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:52596943..52597393hg38UCSC Ensembl
Outerchr15:52889140..52889590hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38451
hg19451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6792264, essv6959958, essv6949512, essv6940759, essv6945412, essv6673825, essv6851848, essv6924751, essv6702856, essv6824032, essv6695989
SamplesSSM024, SSM079, SSM039, SSM023, SSM018, SSM026, SSM031, SSM086, SSM037, SSM022, SSM070
Known GenesFAM214A
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)esv2749699
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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