A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734722



Internal ID10318358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:79535995..79536343hg38UCSC Ensembl
Outerchr7:79165311..79165659hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38349
hg19349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6931285, essv6957521, essv6861237, essv6948116, essv6855679, essv6870016, essv6808653, essv6701412, essv6705312, essv6786726, essv6865949, essv6818577, essv6687502, essv6975320, essv6826707, essv6857676, essv6794980, essv6698115, essv6903999
SamplesSSM071, SSM024, SSM075, SSM011, SSM087, SSM038, SSM039, SSM013, SSM088, SSM090, SSM069, SSM029, SSM026, SSM089, SSM035, SSM003, SSM040, SSM078, SSM080
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)esv2734722
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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