A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6671628



Internal ID10086032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:108043497..108043619hg38UCSC Ensembl
Outerchr7:107683942..107684064hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734998, esv2734999
Supporting Variants
SamplesSSM031
Known GenesLAMB4
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)essv6671628
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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