A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735134



Internal ID10318770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:128126338..128126668hg38UCSC Ensembl
Outerchr7:127766390..127766720hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6964285, essv6811586, essv6861300, essv6814637, essv6975405, essv6671651, essv6881684, essv6826758, essv6855748, essv6818641, essv6907942, essv6701462, essv6870058, essv6719777, essv6795019, essv6822767, essv6708725, essv6841568, essv6845229
SamplesSSM071, SSM027, SSM079, SSM087, SSM039, SSM088, SSM041, SSM084, SSM090, SSM029, SSM094, SSM031, SSM044, SSM014, SSM085, SSM078, SSM080, SSM077, SSM076
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)esv2735134
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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