A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732882



Internal ID10316518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:150372371..150372784hg38UCSC Ensembl
Outerchr6:150693507..150693920hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38414
hg19414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6926908, essv6957189, essv6861003, essv6855392, essv6872862
SamplesSSM087, SSM088, SSM026, SSM019, SSM091
Known GenesIYD
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)esv2732882
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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