A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715614



Internal ID9949901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8480898..8481501hg38UCSC Ensembl
Outerchr17:8384216..8384819hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38604
hg19604
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6674216, essv6863150, essv6858202, essv6743232, essv6747274, essv6717465, essv6936895, essv6696248, essv6741596, essv6905515, essv6665762, essv6839242, essv6949766, essv6792539, essv6960389, essv6920896, essv6966858, essv6941047, essv6852213, essv6784262
SamplesSSM027, SSM024, SSM087, SSM013, SSM088, SSM021, SSM029, SSM026, SSM017, SSM031, SSM086, SSM068, SSM007, SSM037, SSM022, SSM010, SSM055, SSM070, SSM043, SSM052
Known GenesMYH10
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)esv2715614
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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