A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6887116



Internal ID9935379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:160507285..160659918hg38UCSC Ensembl
Outerchr6:160928317..161080950hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38152634
hg19152634
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733055
Supporting Variants
SamplesSSM096
Known GenesLPA, LPAL2
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)essv6887116
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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