A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6952145



Internal ID9713112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:28534702..28535468hg38UCSC Ensembl
Outerchr7:28574320..28575086hg19UCSC Ensembl
Cytoband7p15.1
Allele length
AssemblyAllele length
hg38767
hg19767
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734175
Supporting Variants
SamplesSSM025
Known GenesCREB5
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)essv6952145
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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