A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716242



Internal ID9950530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:75558604..75559131hg38UCSC Ensembl
Outerchr17:73554685..73555212hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38528
hg19528
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6668571, essv6753069, essv6750152, essv6920980, essv6776393, essv6868037, essv6811743, essv6732875, essv6801001, essv6852334, essv6858304, essv6936959, essv6741652, essv6960494, essv6747336, essv6885554, essv6954024, essv6772805, essv6839776, essv6898157, essv6874193
SamplesSSM065, SSM087, SSM009, SSM057, SSM021, SSM047, SSM026, SSM089, SSM017, SSM086, SSM066, SSM072, SSM010, SSM091, SSM055, SSM095, SSM025, SSM099, SSM052, SSM056, SSM030
Known GenesLLGL2
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)esv2716242
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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