A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736727



Internal ID9971059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:19666740..19667262hg38UCSC Ensembl
Outerchr8:19524251..19524773hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38523
hg19523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6958087, essv6834336, essv6740501, essv6791174, essv6683044, essv6746358, essv6691031, essv6873219, essv6970060
SamplesSSM082, SSM036, SSM055, SSM091, SSM005, SSM028, SSM052, SSM026, SSM070
Known GenesCSGALNACT1
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)esv2736727
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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