A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729685



Internal ID10313321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:6519514..6520187hg38UCSC Ensembl
Outerchr5:6519627..6520300hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38674
hg19674
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6774372, essv6719156, essv6781949, essv6903487, essv6708172, essv6869490, essv6930194, essv6711602, essv6770534, essv6918487, essv6974271, essv6726866
SamplesSSM046, SSM065, SSM013, SSM042, SSM041, SSM090, SSM029, SSM017, SSM044, SSM066, SSM068, SSM020
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)esv2729685
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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