A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731371



Internal ID9965688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:676859..677192hg38UCSC Ensembl
Outerchr6:676859..677192hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6911211, essv6947693, essv6848951, essv6715395, essv6943246
SamplesSSM024, SSM023, SSM086, SSM015, SSM043
Known GenesEXOC2
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)esv2731371
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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