A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6904075



Internal ID9669065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:149495933..149623094hg38UCSC Ensembl
Outerchr7:149193024..149320185hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38127162
hg19127162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735330
Supporting Variants
SamplesSSM013
Known GenesZNF746, ZNF767
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)essv6904075
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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