A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733088



Internal ID9967410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:161895030..161896380hg38UCSC Ensembl
Outerchr6:162316062..162317412hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg381351
hg191351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6822567, essv6754663, essv6818399, essv6671323, essv6952032, essv6962451, essv6719571, essv6918966, essv6841382, essv6760149, essv6964150, essv6746051, essv6849335, essv6969505
SamplesSSM086, SSM055, SSM084, SSM061, SSM078, SSM031, SSM025, SSM001, SSM017, SSM028, SSM079, SSM044, SSM004, SSM058
Known GenesPARK2
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)esv2733088
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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