A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749897



Internal ID9984181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:75574931..75575353hg38UCSC Ensembl
Outerchr15:75867272..75867694hg19UCSC Ensembl
Cytoband15q24.2
Allele length
AssemblyAllele length
hg38423
hg19423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6835275, essv6867708, essv6877002, essv6748042, essv6728714
SamplesSSM046, SSM092, SSM089, SSM001, SSM082
Known GenesPTPN9
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)esv2749897
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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