A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733231



Internal ID9967554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167295508..167295691hg38UCSC Ensembl
Outerchr6:167708996..167709179hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6963960, essv6861034, essv6957248, essv6671344, essv6975041, essv6694313, essv6687377, essv6727254, essv6676716, essv6881532, essv6818411, essv6855436, essv6865757, essv6719578, essv6903850, essv6869885
SamplesSSM027, SSM046, SSM087, SSM013, SSM088, SSM090, SSM029, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM044, SSM078, SSM037
Known GenesUNC93A
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)esv2733231
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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