A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718174



Internal ID9952465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:11209404..11210137hg38UCSC Ensembl
Outerchr19:11320080..11320813hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38734
hg19734
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6812924, essv6792895, essv6784622, essv6710316, essv6960959, essv6729297, essv6696669, essv6950148, essv6895542, essv6967444, essv6954324, essv6946095
SamplesSSM027, SSM024, SSM046, SSM041, SSM023, SSM026, SSM068, SSM037, SSM076, SSM070, SSM025, SSM098
Known GenesDOCK6
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)esv2718174
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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