A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735445



Internal ID9969775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:152385212..152385660hg38UCSC Ensembl
Outerchr7:152082297..152082745hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38449
hg19449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6694627, essv6680768, essv6939426
SamplesSSM022, SSM033, SSM037
Known GenesKMT2C
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)esv2735445
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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