A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735509



Internal ID10319145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:154675877..154676966hg38UCSC Ensembl
Outerchr7:154467587..154468676hg19UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg381090
hg191090
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6818694, essv6754868, essv6671718, essv6760339, essv6964370, essv6705412, essv6855817, essv6734627, essv6881733, essv6890563, essv6680782, essv6890562, essv6919295
SamplesSSM027, SSM087, SSM097, SSM058, SSM061, SSM017, SSM094, SSM031, SSM033, SSM040, SSM078, SSM049
Known GenesDPP6
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)esv2735509
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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