A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6818095



Internal ID10221078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:6277129..6277359hg38UCSC Ensembl
Outerchr6:6277362..6277592hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg38231
hg19231
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731530
Supporting Variants
SamplesSSM078
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)essv6818095
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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