A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733229



Internal ID9967552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167244009..167244183hg38UCSC Ensembl
Outerchr6:167657497..167657671hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6907734, essv6887123
SamplesSSM096, SSM014
Known Genes
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)esv2733229
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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