A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735207



Internal ID10318843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:137448079..137448890hg38UCSC Ensembl
Outerchr7:137132825..137133636hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38812
hg19812
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6969774, essv6763919, essv6826771, essv6876003, essv6904049, essv6919223, essv6931751, essv6935105, essv6694584, essv6975426, essv6845237, essv6911668, essv6798509, essv6873049, essv6731298, essv6811594, essv6771160, essv6890798
SamplesSSM008, SSM065, SSM013, SSM009, SSM028, SSM092, SSM021, SSM029, SSM017, SSM003, SSM085, SSM007, SSM015, SSM080, SSM037, SSM076, SSM091, SSM012
Known GenesDGKI
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)esv2735207
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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