A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731722



Internal ID9966040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:25529174..25530283hg38UCSC Ensembl
Outerchr6:25529402..25530511hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg381110
hg191110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6963619, essv6734291, essv6974676, essv6849026, essv6865511, essv6860736, essv6764940, essv6671031, essv6757343, essv6956900, essv6818136, essv6739918, essv6754464, essv6855132
SamplesSSM027, SSM086, SSM078, SSM088, SSM089, SSM031, SSM029, SSM063, SSM087, SSM052, SSM026, SSM049, SSM058, SSM059
Known GenesLRRC16A
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)esv2731722
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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