A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733074



Internal ID9967396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:161262788..161263427hg38UCSC Ensembl
Outerchr6:161683820..161684459hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38640
hg19640
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6930578, essv6774695, essv6754662, essv6923195, essv6963938, essv6849333, essv6757500, essv6765109, essv6855417, essv6737072, essv6962429, essv6762043, essv6975014
SamplesSSM027, SSM086, SSM020, SSM050, SSM066, SSM029, SSM063, SSM087, SSM004, SSM008, SSM018, SSM058, SSM059
Known GenesAGPAT4
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)esv2733074
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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