A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735612



Internal ID10319248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:156052869..156053433hg38UCSC Ensembl
Outerchr7:155845563..155846127hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38565
hg19565
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6790943, essv6841635, essv6900035, essv6964391, essv6969823, essv6782622, essv6935166, essv6727535, essv6876050, essv6957690, essv6915428, essv6751911, essv6746232, essv6948236, essv6861373, essv6830562, essv6975522, essv6904104, essv6767853, essv6908010
SamplesSSM100, SSM027, SSM024, SSM046, SSM064, SSM013, SSM088, SSM057, SSM028, SSM092, SSM084, SSM021, SSM029, SSM026, SSM014, SSM068, SSM081, SSM016, SSM055, SSM070
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)esv2735612
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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