A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727693



Internal ID10311329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:61162553..61162866hg38UCSC Ensembl
Outerchr4:62028271..62028584hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6817548, essv6854457, essv6700497, essv6707968, essv6670282, essv6951416, essv6922600, essv6906955, essv6860186, essv6864982
SamplesSSM087, SSM039, SSM088, SSM041, SSM018, SSM089, SSM031, SSM014, SSM078, SSM025
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)esv2727693
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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