A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6935130



Internal ID10043949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:143508844..143517479hg38UCSC Ensembl
Outerchr7:143205937..143214572hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg388636
hg198636
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735281
Supporting Variants
SamplesSSM021
Known GenesEPHA1-AS1
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)essv6935130
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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