A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734186



Internal ID10317822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:29631037..29744131hg38UCSC Ensembl
Outerchr7:29670653..29783747hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38113095
hg19113095
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6734514, essv6667690, essv6875913, essv6765160, essv6919094, essv6751785, essv6760213, essv6963273, essv6778430, essv6935002, essv6667689, essv6826628, essv6734513, essv6901896, essv6684193, essv6969040, essv6719646, essv6762772, essv6808593, essv6754729, essv6715755, essv6705131, essv6701339, essv6927020, essv6762864
SamplesSSM008, SSM075, SSM039, SSM002, SSM057, SSM058, SSM092, SSM021, SSM061, SSM062, SSM017, SSM019, SSM067, SSM044, SSM001, SSM006, SSM080, SSM034, SSM004, SSM043, SSM049, SSM030, SSM063
Known GenesDPY19L2P3, LOC646762, MIR550A3, ZNRF2P2
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)esv2734186
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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