A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6711888



Internal ID9777787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:73218986..73234336hg38UCSC Ensembl
Outerchr6:73928709..73944059hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3815351
hg1915351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732286, esv2732287
Supporting Variants
SamplesSSM042
Known GenesKHDC1L
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)essv6711888
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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