A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716247



Internal ID9950535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:75802934..75803117hg38UCSC Ensembl
Outerchr17:73799015..73799198hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6721397, essv6868038, essv6824338, essv6703211, essv6920981, essv6932661, essv6696335, essv6852335
SamplesSSM086, SSM089, SSM020, SSM039, SSM017, SSM037, SSM079, SSM044
Known GenesUNK
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)esv2716247
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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