A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735152



Internal ID9969482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:130042116..130045828hg38UCSC Ensembl
Outerchr7:129681956..129685668hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg383713
hg193713
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6935099
SamplesSSM021
Known GenesZC3HC1
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)esv2735152
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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