A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733639



Internal ID9967963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:17358333..17358898hg38UCSC Ensembl
Outerchr10:17400332..17400897hg19UCSC Ensembl
Cytoband10p12.33
Allele length
AssemblyAllele length
hg38566
hg19566
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6768245, essv6779134, essv6915846, essv6873436, essv6771748, essv6856664, essv6850647, essv6936185, essv6952883, essv6939980, essv6935755, essv6695179, essv6823304, essv6923982
SamplesSSM065, SSM022, SSM086, SSM091, SSM064, SSM025, SSM016, SSM067, SSM003, SSM021, SSM037, SSM087, SSM079, SSM018
Known GenesST8SIA6
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)esv2733639
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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