A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731530



Internal ID10315166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:6277090..6277355hg38UCSC Ensembl
Outerchr6:6277323..6277588hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6855097, essv6963581, essv6818095, essv6956857, essv6865471, essv6697852, essv6907437, essv6670986, essv6860704, essv6848980
SamplesSSM027, SSM087, SSM038, SSM088, SSM026, SSM089, SSM031, SSM014, SSM086, SSM078
Known GenesF13A1
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)esv2731530
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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