A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6948138



Internal ID9709296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:100993120..101003306hg38UCSC Ensembl
Outerchr7:100636401..100646587hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3810187
hg1910187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734888, esv2734908, esv2734910
Supporting Variants
SamplesSSM024
Known GenesMUC12
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)essv6948138
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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