A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735180



Internal ID9969510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:134537494..134577074hg38UCSC Ensembl
Outerchr7:134222246..134261826hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3839581
hg1939581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6763886, essv6904045, essv6975416, essv6767816, essv6795028
SamplesSSM013, SSM064, SSM071, SSM029, SSM008
Known GenesAKR1B10, AKR1B15
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)esv2735180
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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