A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718175



Internal ID9952466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:11209461..11209685hg38UCSC Ensembl
Outerchr19:11320137..11320361hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6792895, essv6895542, essv6950148, essv6710316, essv6696669, essv6729297, essv6954324, essv6812924, essv6946095, essv6784622
SamplesSSM025, SSM024, SSM041, SSM037, SSM046, SSM023, SSM068, SSM098, SSM076, SSM070
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)esv2718175
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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