A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6798604



Internal ID9855753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:42628300..42631038hg38UCSC Ensembl
Outerchr5:42628402..42631140hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg382739
hg192739
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730136
Supporting Variants
SamplesSSM072
Known GenesGHR
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)essv6798604
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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