A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734175



Internal ID9968502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:28534698..28535483hg38UCSC Ensembl
Outerchr7:28574316..28575101hg19UCSC Ensembl
Cytoband7p15.1
Allele length
AssemblyAllele length
hg38786
hg19786
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6952145, essv6786645, essv6833992, essv6822650, essv6715753
SamplesSSM082, SSM043, SSM025, SSM069, SSM079
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)esv2734175
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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