A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732291



Internal ID10315927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:73363330..73364022hg38UCSC Ensembl
Outerchr6:74073053..74073745hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38693
hg19693
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6957069, essv6795998, essv6974852
SamplesSSM009, SSM029, SSM026
Known GenesKHDC3L
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)esv2732291
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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