A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6930481



Internal ID9693319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:73210848..73243334hg38UCSC Ensembl
Outerchr6:73920571..73953057hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3832487
hg1932487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732286
Supporting Variants
SamplesSSM020
Known GenesKHDC1, KHDC1L
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)essv6930481
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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